Canonical Allele Identifier: CA10578654

Gene: PMS2

Linked Data

• ClinVar Variation Id: 232650
• ClinVar RCV Id: RCV000216032 ; RCV001056896 ; RCV000760558 ; RCV003454641
• dbSNP Id: rs876659900
• gnomAD v2: 7-6022492-G-A
• MyVariant Identifiers: chr7:g.6022492G>A (hg19) ; chr7:g.5982861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982861G>A , CM000669.2:g.5982861G>A	GRCh38
NC_000007.13:g.6022492G>A , CM000669.1:g.6022492G>A	GRCh37
NC_000007.12:g.5989018G>A	NCBI36
NG_008466.1:g.31246C>T , LRG_161:g.31246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1533C>T	ENSP00000514615.2:n.*1533C>T
ENST00000699840.2:c.2134C>T	ENSP00000514638.2:p.Gln712Ter
ENST00000699930.2:c.2029C>T	ENSP00000514695.2:p.Gln677Ter
ENST00000406569.8:c.1678+4226C>T	ENSP00000514464.1:n.1678+4226C>T
ENST00000644110.2:c.*1731C>T	ENSP00000496392.2:n.*1731C>T
ENST00000699752.1:c.1981C>T	ENSP00000514561.1:p.Gln661Ter
ENST00000699753.1:c.*1558C>T	ENSP00000514562.1:n.*1558C>T
ENST00000699754.1:c.1939C>T	ENSP00000514563.1:p.Gln647Ter
ENST00000699755.1:c.*1536C>T	ENSP00000514564.1:n.*1536C>T
ENST00000699756.1:c.*1724C>T	ENSP00000514565.1:n.*1724C>T
ENST00000699757.1:c.*1394C>T	ENSP00000514566.1:n.*1394C>T
ENST00000699758.1:c.*1394C>T	ENSP00000514567.1:n.*1394C>T
ENST00000699759.1:n.2991C>T
ENST00000699760.1:c.1819C>T	ENSP00000514568.1:p.Gln607Ter
ENST00000699761.1:c.1732C>T	ENSP00000514569.1:p.Gln578Ter
ENST00000699762.1:c.1564C>T	ENSP00000514570.1:p.Gln522Ter
ENST00000699763.1:c.*1227C>T	ENSP00000514571.1:n.*1227C>T
ENST00000699764.1:c.*455C>T	ENSP00000514572.1:n.*455C>T
ENST00000699765.1:c.*1233C>T	ENSP00000514573.1:n.*1233C>T
ENST00000699766.1:c.2137C>T	ENSP00000514574.1:p.Gln713Ter
ENST00000699767.1:c.2137C>T	ENSP00000514575.1:p.Gln713Ter
ENST00000699768.1:c.2137C>T	ENSP00000514576.1:p.Gln713Ter
ENST00000699811.1:c.1732C>T	ENSP00000514614.1:p.Gln578Ter
ENST00000699813.1:n.2250C>T
ENST00000699814.1:c.1760C>T
ENST00000699815.1:c.*1668C>T	ENSP00000514616.1:n.*1668C>T
ENST00000699816.1:c.*1027C>T	ENSP00000514617.1:n.*1027C>T
ENST00000699817.1:c.*1731C>T	ENSP00000514618.1:n.*1731C>T
ENST00000699818.1:c.1732C>T	ENSP00000514619.1:p.Gln578Ter
ENST00000699819.1:c.*1294C>T	ENSP00000514620.1:n.*1294C>T
ENST00000699820.1:c.*75C>T	ENSP00000514621.1:n.*75C>T
ENST00000699821.1:c.1732C>T	ENSP00000514622.1:p.Gln578Ter
ENST00000699822.1:c.*1589C>T	ENSP00000514623.1:n.*1589C>T
ENST00000699823.1:c.1732C>T	ENSP00000514624.1:p.Gln578Ter
ENST00000699824.1:c.*1640C>T	ENSP00000514625.1:n.*1640C>T
ENST00000699825.1:c.1576C>T	ENSP00000514626.1:p.Gln526Ter
ENST00000699826.1:c.*1536C>T	ENSP00000514627.1:n.*1536C>T
ENST00000699827.1:c.1969C>T	ENSP00000514628.1:p.Gln657Ter
ENST00000699828.1:c.*1227C>T	ENSP00000514629.1:n.*1227C>T
ENST00000699833.1:n.3909C>T
ENST00000699837.1:c.1732C>T	ENSP00000514635.1:p.Gln578Ter
ENST00000699838.1:c.*2037C>T	ENSP00000514636.1:n.*2037C>T
ENST00000699839.1:c.2323C>T	ENSP00000514637.1:p.Gln775Ter
ENST00000699916.1:c.*1394C>T	ENSP00000514684.1:n.*1394C>T
ENST00000699917.1:c.*1586C>T	ENSP00000514685.1:n.*1586C>T
ENST00000699918.1:c.*1638C>T	ENSP00000514686.1:n.*1638C>T
ENST00000699919.1:c.*1724C>T	ENSP00000514687.1:n.*1724C>T
ENST00000699920.1:c.*1773C>T	ENSP00000514688.1:n.*1773C>T
ENST00000699928.1:c.*75C>T	ENSP00000514693.1:n.*75C>T
ENST00000699951.1:c.*1233C>T	ENSP00000514706.1:n.*1233C>T
ENST00000699952.1:c.804-9319C>T	ENSP00000514707.1:n.804-9319C>T
ENST00000265849.12:c.2137C>T MANE Select	ENSP00000265849.7:p.Gln713Ter
ENST00000642292.1:c.1732C>T	ENSP00000495524.1:p.Gln578Ter
ENST00000642456.1:c.1732C>T	ENSP00000493814.1:p.Gln578Ter
ENST00000643595.1:c.*1536C>T	ENSP00000494497.1:n.*1536C>T
ENST00000644110.1:c.1819C>T	ENSP00000496392.1:p.Gln607Ter
ENST00000265849.11:c.2137C>T	ENSP00000265849.7:p.Gln713Ter
ENST00000382321.5:c.934C>T	ENSP00000371758.4:p.Gln312Ter
ENST00000406569.7:n.1678+4226C>T
ENST00000441476.6:c.1819C>T	ENSP00000392843.2:p.Gln607Ter
NM_000535.5:c.2137C>T , LRG_161t1:c.2137C>T	NP_000526.1:p.Gln713Ter
NR_003085.2:n.2219C>T
XM_006715742.2:c.2131C>T	XP_006715805.1:p.Gln711Ter
XM_006715744.2:c.1204C>T	XP_006715807.1:p.Gln402Ter
XM_011515427.1:c.2182C>T	XP_011513729.1:p.Gln728Ter
XM_011515428.1:c.2026C>T	XP_011513730.1:p.Gln676Ter
XM_011515429.1:c.1819C>T	XP_011513731.1:p.Gln607Ter
XM_011515430.1:c.1819C>T	XP_011513732.1:p.Gln607Ter
NM_000535.6:c.2137C>T	NP_000526.2:p.Gln713Ter
NM_001322003.1:c.1732C>T	NP_001308932.1:p.Gln578Ter
NM_001322004.1:c.1732C>T	NP_001308933.1:p.Gln578Ter
NM_001322005.1:c.1732C>T	NP_001308934.1:p.Gln578Ter
NM_001322006.1:c.1981C>T	NP_001308935.1:p.Gln661Ter
NM_001322007.1:c.1819C>T	NP_001308936.1:p.Gln607Ter
NM_001322008.1:c.1819C>T	NP_001308937.1:p.Gln607Ter
NM_001322009.1:c.1732C>T	NP_001308938.1:p.Gln578Ter
NM_001322010.1:c.1576C>T	NP_001308939.1:p.Gln526Ter
NM_001322011.1:c.1204C>T	NP_001308940.1:p.Gln402Ter
NM_001322012.1:c.1204C>T	NP_001308941.1:p.Gln402Ter
NM_001322013.1:c.1564C>T	NP_001308942.1:p.Gln522Ter
NM_001322014.1:c.2137C>T	NP_001308943.1:p.Gln713Ter
NM_001322015.1:c.1828C>T	NP_001308944.1:p.Gln610Ter
NR_136154.1:n.2224C>T
XM_006715744.4:c.1204C>T	XP_006715807.1:p.Gln402Ter
XM_017012342.2:c.1204C>T	XP_016867831.1:p.Gln402Ter
XM_024446800.1:c.1576C>T	XP_024302568.1:p.Gln526Ter
NM_000535.7:c.2137C>T MANE Select	NP_000526.2:p.Gln713Ter
NM_001322003.2:c.1732C>T	NP_001308932.1:p.Gln578Ter
NM_001322004.2:c.1732C>T	NP_001308933.1:p.Gln578Ter
NM_001322005.2:c.1732C>T	NP_001308934.1:p.Gln578Ter
NM_001322006.2:c.1981C>T	NP_001308935.1:p.Gln661Ter
NM_001322008.2:c.1819C>T	NP_001308937.1:p.Gln607Ter
NM_001322009.2:c.1732C>T	NP_001308938.1:p.Gln578Ter
NM_001322010.2:c.1576C>T	NP_001308939.1:p.Gln526Ter
NM_001322011.2:c.1204C>T	NP_001308940.1:p.Gln402Ter
NM_001322012.2:c.1204C>T	NP_001308941.1:p.Gln402Ter
NM_001322013.2:c.1564C>T	NP_001308942.1:p.Gln522Ter
NM_001322014.2:c.2137C>T	NP_001308943.1:p.Gln713Ter
NM_001322015.2:c.1828C>T	NP_001308944.1:p.Gln610Ter
NM_001322007.2:c.1819C>T	NP_001308936.1:p.Gln607Ter