Canonical Allele Identifier: CA012575

Gene: PMS2

Linked Data

• ClinVar Variation Id: 91363
• ClinVar RCV Id: RCV000076882 ; RCV000132294 ; RCV001854344 ; RCV001778704 ; RCV002288576 ; RCV001762199
• dbSNP Id: rs63750261
• MyVariant Identifiers: chr7:g.6038741G>A (hg19) ; chr7:g.5999110G>A (hg38)
• PubMed: PMID:15887099

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5999110G>A , CM000669.2:g.5999110G>A	GRCh38
NC_000007.13:g.6038741G>A , CM000669.1:g.6038741G>A	GRCh37
NC_000007.12:g.6005267G>A	NCBI36
NG_008466.1:g.14997C>T , LRG_161:g.14997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*297C>T	ENSP00000514615.2:n.*297C>T
ENST00000699840.2:c.700C>T	ENSP00000514638.2:p.Gln234Ter
ENST00000699930.2:c.597+106C>T	ENSP00000514695.2:n.597+106C>T
ENST00000406569.8:c.703C>T	ENSP00000514464.1:p.Gln235Ter
ENST00000644110.2:c.*297C>T	ENSP00000496392.2:n.*297C>T
ENST00000699752.1:c.703C>T	ENSP00000514561.1:p.Gln235Ter
ENST00000699753.1:c.*102C>T	ENSP00000514562.1:n.*102C>T
ENST00000699754.1:c.703C>T	ENSP00000514563.1:p.Gln235Ter
ENST00000699755.1:c.*102C>T	ENSP00000514564.1:n.*102C>T
ENST00000699756.1:c.*290C>T	ENSP00000514565.1:n.*290C>T
ENST00000699757.1:c.152C>T	ENSP00000514566.1:p.Ala51Val
ENST00000699758.1:c.416C>T	ENSP00000514567.1:p.Ala139Val
ENST00000699759.1:n.775C>T
ENST00000699760.1:c.385C>T	ENSP00000514568.1:p.Gln129Ter
ENST00000699761.1:c.298C>T	ENSP00000514569.1:p.Gln100Ter
ENST00000699762.1:c.133-1687C>T	ENSP00000514570.1:n.133-1687C>T
ENST00000699763.1:c.298C>T	ENSP00000514571.1:p.Gln100Ter
ENST00000699764.1:c.703C>T	ENSP00000514572.1:p.Gln235Ter
ENST00000699765.1:c.385C>T	ENSP00000514573.1:p.Gln129Ter
ENST00000699766.1:c.703C>T	ENSP00000514574.1:p.Gln235Ter
ENST00000699767.1:c.703C>T	ENSP00000514575.1:p.Gln235Ter
ENST00000699768.1:c.703C>T	ENSP00000514576.1:p.Gln235Ter
ENST00000699811.1:c.298C>T	ENSP00000514614.1:p.Gln100Ter
ENST00000699813.1:n.816C>T
ENST00000699814.1:c.524C>T
ENST00000699815.1:c.*204C>T	ENSP00000514616.1:n.*204C>T
ENST00000699816.1:c.298C>T	ENSP00000514617.1:p.Gln100Ter
ENST00000699817.1:c.*297C>T	ENSP00000514618.1:n.*297C>T
ENST00000699818.1:c.298C>T	ENSP00000514619.1:p.Gln100Ter
ENST00000699819.1:c.236C>T	ENSP00000514620.1:p.Ala79Val
ENST00000699820.1:c.703C>T	ENSP00000514621.1:p.Gln235Ter
ENST00000699821.1:c.298C>T	ENSP00000514622.1:p.Gln100Ter
ENST00000699822.1:c.*155C>T	ENSP00000514623.1:n.*155C>T
ENST00000699823.1:c.298C>T	ENSP00000514624.1:p.Gln100Ter
ENST00000699824.1:c.*206C>T	ENSP00000514625.1:n.*206C>T
ENST00000699825.1:c.298C>T	ENSP00000514626.1:p.Gln100Ter
ENST00000699826.1:c.*102C>T	ENSP00000514627.1:n.*102C>T
ENST00000699827.1:c.538-1687C>T	ENSP00000514628.1:n.538-1687C>T
ENST00000699828.1:c.703C>T	ENSP00000514629.1:p.Gln235Ter
ENST00000699829.1:c.*204C>T	ENSP00000514630.1:n.*204C>T
ENST00000699830.1:c.*102C>T	ENSP00000514631.1:n.*102C>T
ENST00000699831.1:n.615C>T
ENST00000699832.1:n.986C>T
ENST00000699833.1:n.783C>T
ENST00000699834.1:n.807+102C>T
ENST00000699837.1:c.298C>T	ENSP00000514635.1:p.Gln100Ter
ENST00000699838.1:c.*603C>T	ENSP00000514636.1:n.*603C>T
ENST00000699839.1:c.889C>T	ENSP00000514637.1:p.Gln297Ter
ENST00000699840.1:c.700C>T	ENSP00000514638.1:p.Gln234Ter
ENST00000699916.1:c.251C>T	ENSP00000514684.1:p.Ala84Val
ENST00000699917.1:c.*152C>T	ENSP00000514685.1:n.*152C>T
ENST00000699918.1:c.*204C>T	ENSP00000514686.1:n.*204C>T
ENST00000699919.1:c.*290C>T	ENSP00000514687.1:n.*290C>T
ENST00000699920.1:c.*339C>T	ENSP00000514688.1:n.*339C>T
ENST00000699928.1:c.703C>T	ENSP00000514693.1:p.Gln235Ter
ENST00000699929.1:c.*102C>T	ENSP00000514694.1:n.*102C>T
ENST00000699930.1:c.597+106C>T	ENSP00000514695.1:n.597+106C>T
ENST00000699931.1:n.814C>T
ENST00000699932.1:c.703C>T	ENSP00000514696.1:p.Gln235Ter
ENST00000699933.1:n.783C>T
ENST00000699951.1:c.703C>T	ENSP00000514706.1:p.Gln235Ter
ENST00000699952.1:c.703C>T	ENSP00000514707.1:p.Gln235Ter
ENST00000699953.1:c.703C>T	ENSP00000514708.1:p.Gln235Ter
ENST00000699954.1:c.*102C>T	ENSP00000514709.1:n.*102C>T
ENST00000265849.12:c.703C>T MANE Select	ENSP00000265849.7:p.Gln235Ter
ENST00000642292.1:c.298C>T	ENSP00000495524.1:p.Gln100Ter
ENST00000642456.1:c.298C>T	ENSP00000493814.1:p.Gln100Ter
ENST00000643595.1:c.*102C>T	ENSP00000494497.1:n.*102C>T
ENST00000644110.1:c.385C>T	ENSP00000496392.1:p.Gln129Ter
ENST00000265849.11:c.703C>T	ENSP00000265849.7:p.Gln235Ter
ENST00000382321.5:c.703C>T	ENSP00000371758.4:p.Gln235Ter
ENST00000406569.7:n.703C>T
ENST00000441476.6:c.385C>T	ENSP00000392843.2:p.Gln129Ter
ENST00000469652.1:n.62+6883C>T
NM_000535.5:c.703C>T , LRG_161t1:c.703C>T	NP_000526.1:p.Gln235Ter
NR_003085.2:n.785C>T
XM_006715742.2:c.697C>T	XP_006715805.1:p.Gln233Ter
XM_011515427.1:c.748C>T	XP_011513729.1:p.Gln250Ter
XM_011515428.1:c.748C>T	XP_011513730.1:p.Gln250Ter
XM_011515429.1:c.385C>T	XP_011513731.1:p.Gln129Ter
XM_011515430.1:c.385C>T	XP_011513732.1:p.Gln129Ter
NM_000535.6:c.703C>T	NP_000526.2:p.Gln235Ter
NM_001322003.1:c.298C>T	NP_001308932.1:p.Gln100Ter
NM_001322004.1:c.298C>T	NP_001308933.1:p.Gln100Ter
NM_001322005.1:c.298C>T	NP_001308934.1:p.Gln100Ter
NM_001322006.1:c.703C>T	NP_001308935.1:p.Gln235Ter
NM_001322007.1:c.385C>T	NP_001308936.1:p.Gln129Ter
NM_001322008.1:c.385C>T	NP_001308937.1:p.Gln129Ter
NM_001322009.1:c.298C>T	NP_001308938.1:p.Gln100Ter
NM_001322010.1:c.298C>T	NP_001308939.1:p.Gln100Ter
NM_001322011.1:c.-231C>T	NP_001308940.1:n.-231C>T
NM_001322012.1:c.-231C>T	NP_001308941.1:n.-231C>T
NM_001322013.1:c.133-1687C>T	NP_001308942.1:n.133-1687C>T
NM_001322014.1:c.703C>T	NP_001308943.1:p.Gln235Ter
NM_001322015.1:c.394C>T	NP_001308944.1:p.Gln132Ter
NR_136154.1:n.790C>T
XM_017012342.2:c.-131C>T	XP_016867831.1:n.-131C>T
XM_024446800.1:c.298C>T	XP_024302568.1:p.Gln100Ter
NM_000535.7:c.703C>T MANE Select	NP_000526.2:p.Gln235Ter
NM_001322003.2:c.298C>T	NP_001308932.1:p.Gln100Ter
NM_001322004.2:c.298C>T	NP_001308933.1:p.Gln100Ter
NM_001322005.2:c.298C>T	NP_001308934.1:p.Gln100Ter
NM_001322006.2:c.703C>T	NP_001308935.1:p.Gln235Ter
NM_001322008.2:c.385C>T	NP_001308937.1:p.Gln129Ter
NM_001322009.2:c.298C>T	NP_001308938.1:p.Gln100Ter
NM_001322010.2:c.298C>T	NP_001308939.1:p.Gln100Ter
NM_001322011.2:c.-231C>T	NP_001308940.1:n.-231C>T
NM_001322012.2:c.-231C>T	NP_001308941.1:n.-231C>T
NM_001322013.2:c.133-1687C>T	NP_001308942.1:n.133-1687C>T
NM_001322014.2:c.703C>T	NP_001308943.1:p.Gln235Ter
NM_001322015.2:c.394C>T	NP_001308944.1:p.Gln132Ter
NM_001322007.2:c.385C>T	NP_001308936.1:p.Gln129Ter