Canonical Allele Identifier: CA011368

Gene: PMS2

Linked Data

• ClinVar Variation Id: 140758
• ClinVar RCV Id: RCV000128875 ; RCV001567177 ; RCV000560365
• dbSNP Id: rs587781265
• ExAC: 7:6017290 C / T
• gnomAD v2: 7-6017290-C-T
• gnomAD v4: 7-5977659-C-T
• MyVariant Identifiers: chr7:g.6017290C>T (hg19) ; chr7:g.5977659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977659C>T , CM000669.2:g.5977659C>T	GRCh38
NC_000007.13:g.6017290C>T , CM000669.1:g.6017290C>T	GRCh37
NC_000007.12:g.5983816C>T	NCBI36
NG_008466.1:g.36448G>A , LRG_161:g.36448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1770G>A	ENSP00000514615.2:n.*1770G>A
ENST00000699840.2:c.2371G>A	ENSP00000514638.2:p.Asp791Asn
ENST00000699930.2:c.2266G>A	ENSP00000514695.2:p.Asp756Asn
ENST00000406569.8:c.1734G>A	ENSP00000514464.1:n.1734G>A
ENST00000644110.2:c.*1968G>A	ENSP00000496392.2:n.*1968G>A
ENST00000699752.1:c.2218G>A	ENSP00000514561.1:p.Asp740Asn
ENST00000699753.1:c.*1795G>A	ENSP00000514562.1:n.*1795G>A
ENST00000699754.1:c.2176G>A	ENSP00000514563.1:p.Asp726Asn
ENST00000699755.1:c.*1773G>A	ENSP00000514564.1:n.*1773G>A
ENST00000699756.1:c.*1961G>A	ENSP00000514565.1:n.*1961G>A
ENST00000699757.1:c.*1631G>A	ENSP00000514566.1:n.*1631G>A
ENST00000699758.1:c.*1631G>A	ENSP00000514567.1:n.*1631G>A
ENST00000699759.1:n.3228G>A
ENST00000699760.1:c.2056G>A	ENSP00000514568.1:p.Asp686Asn
ENST00000699761.1:c.1969G>A	ENSP00000514569.1:p.Asp657Asn
ENST00000699762.1:c.1801G>A	ENSP00000514570.1:p.Asp601Asn
ENST00000699763.1:c.*1464G>A	ENSP00000514571.1:n.*1464G>A
ENST00000699764.1:c.*692G>A	ENSP00000514572.1:n.*692G>A
ENST00000699765.1:c.*1369G>A	ENSP00000514573.1:n.*1369G>A
ENST00000699766.1:c.2407G>A	ENSP00000514574.1:p.Asp803Asn
ENST00000699767.1:c.*15G>A	ENSP00000514575.1:n.*15G>A
ENST00000699768.1:c.2230G>A	ENSP00000514576.1:p.Asp744Asn
ENST00000699811.1:c.1969G>A	ENSP00000514614.1:p.Asp657Asn
ENST00000699813.1:n.2487G>A
ENST00000699814.1:c.1997G>A
ENST00000699815.1:c.*1905G>A	ENSP00000514616.1:n.*1905G>A
ENST00000699816.1:c.*1264G>A	ENSP00000514617.1:n.*1264G>A
ENST00000699817.1:c.*1968G>A	ENSP00000514618.1:n.*1968G>A
ENST00000699818.1:c.1969G>A	ENSP00000514619.1:p.Asp657Asn
ENST00000699819.1:c.*1531G>A	ENSP00000514620.1:n.*1531G>A
ENST00000699820.1:c.*312G>A	ENSP00000514621.1:n.*312G>A
ENST00000699821.1:c.2002G>A	ENSP00000514622.1:p.Asp668Asn
ENST00000699822.1:c.*1826G>A	ENSP00000514623.1:n.*1826G>A
ENST00000699823.1:c.1969G>A	ENSP00000514624.1:p.Asp657Asn
ENST00000699824.1:c.*1877G>A	ENSP00000514625.1:n.*1877G>A
ENST00000699825.1:c.1813G>A	ENSP00000514626.1:p.Asp605Asn
ENST00000699826.1:c.*1773G>A	ENSP00000514627.1:n.*1773G>A
ENST00000699827.1:c.2206G>A	ENSP00000514628.1:p.Asp736Asn
ENST00000699828.1:c.*1464G>A	ENSP00000514629.1:n.*1464G>A
ENST00000699833.1:n.4146G>A
ENST00000699837.1:c.1969G>A	ENSP00000514635.1:p.Asp657Asn
ENST00000699838.1:c.*2274G>A	ENSP00000514636.1:n.*2274G>A
ENST00000699839.1:c.2560G>A	ENSP00000514637.1:p.Asp854Asn
ENST00000699916.1:c.*1631G>A	ENSP00000514684.1:n.*1631G>A
ENST00000699917.1:c.*1823G>A	ENSP00000514685.1:n.*1823G>A
ENST00000699918.1:c.*1875G>A	ENSP00000514686.1:n.*1875G>A
ENST00000699919.1:c.*1961G>A	ENSP00000514687.1:n.*1961G>A
ENST00000699920.1:c.*2010G>A	ENSP00000514688.1:n.*2010G>A
ENST00000699928.1:c.*312G>A	ENSP00000514693.1:n.*312G>A
ENST00000699951.1:c.*1427G>A	ENSP00000514706.1:n.*1427G>A
ENST00000699952.1:c.804-4117G>A	ENSP00000514707.1:n.804-4117G>A
ENST00000265849.12:c.2374G>A MANE Select	ENSP00000265849.7:p.Asp792Asn
ENST00000642292.1:c.1969G>A	ENSP00000495524.1:p.Asp657Asn
ENST00000642456.1:c.1969G>A	ENSP00000493814.1:p.Asp657Asn
ENST00000643595.1:c.*1773G>A	ENSP00000494497.1:n.*1773G>A
ENST00000644110.1:c.2056G>A	ENSP00000496392.1:p.Asp686Asn
ENST00000265849.11:c.2374G>A	ENSP00000265849.7:p.Asp792Asn
ENST00000382321.5:c.1171G>A	ENSP00000371758.4:p.Asp391Asn
ENST00000441476.6:c.2056G>A	ENSP00000392843.2:p.Asp686Asn
NM_000535.5:c.2374G>A , LRG_161t1:c.2374G>A	NP_000526.1:p.Asp792Asn
NR_003085.2:n.2456G>A
XM_006715742.2:c.2368G>A	XP_006715805.1:p.Asp790Asn
XM_006715744.2:c.1441G>A	XP_006715807.1:p.Asp481Asn
XM_011515427.1:c.2419G>A	XP_011513729.1:p.Asp807Asn
XM_011515428.1:c.2263G>A	XP_011513730.1:p.Asp755Asn
XM_011515429.1:c.2056G>A	XP_011513731.1:p.Asp686Asn
XM_011515430.1:c.2056G>A	XP_011513732.1:p.Asp686Asn
NM_000535.6:c.2374G>A	NP_000526.2:p.Asp792Asn
NM_001322003.1:c.1969G>A	NP_001308932.1:p.Asp657Asn
NM_001322004.1:c.1969G>A	NP_001308933.1:p.Asp657Asn
NM_001322005.1:c.1969G>A	NP_001308934.1:p.Asp657Asn
NM_001322006.1:c.2218G>A	NP_001308935.1:p.Asp740Asn
NM_001322007.1:c.2056G>A	NP_001308936.1:p.Asp686Asn
NM_001322008.1:c.2056G>A	NP_001308937.1:p.Asp686Asn
NM_001322009.1:c.2002G>A	NP_001308938.1:p.Asp668Asn
NM_001322010.1:c.1813G>A	NP_001308939.1:p.Asp605Asn
NM_001322011.1:c.1441G>A	NP_001308940.1:p.Asp481Asn
NM_001322012.1:c.1441G>A	NP_001308941.1:p.Asp481Asn
NM_001322013.1:c.1801G>A	NP_001308942.1:p.Asp601Asn
NM_001322014.1:c.2407G>A	NP_001308943.1:p.Asp803Asn
NM_001322015.1:c.2065G>A	NP_001308944.1:p.Asp689Asn
NR_136154.1:n.2418G>A
XM_006715744.4:c.1441G>A	XP_006715807.1:p.Asp481Asn
XM_017012342.2:c.1441G>A	XP_016867831.1:p.Asp481Asn
XM_024446800.1:c.1813G>A	XP_024302568.1:p.Asp605Asn
NM_000535.7:c.2374G>A MANE Select	NP_000526.2:p.Asp792Asn
NM_001322003.2:c.1969G>A	NP_001308932.1:p.Asp657Asn
NM_001322004.2:c.1969G>A	NP_001308933.1:p.Asp657Asn
NM_001322005.2:c.1969G>A	NP_001308934.1:p.Asp657Asn
NM_001322006.2:c.2218G>A	NP_001308935.1:p.Asp740Asn
NM_001322008.2:c.2056G>A	NP_001308937.1:p.Asp686Asn
NM_001322009.2:c.2002G>A	NP_001308938.1:p.Asp668Asn
NM_001322010.2:c.1813G>A	NP_001308939.1:p.Asp605Asn
NM_001322011.2:c.1441G>A	NP_001308940.1:p.Asp481Asn
NM_001322012.2:c.1441G>A	NP_001308941.1:p.Asp481Asn
NM_001322013.2:c.1801G>A	NP_001308942.1:p.Asp601Asn
NM_001322014.2:c.2407G>A	NP_001308943.1:p.Asp803Asn
NM_001322015.2:c.2065G>A	NP_001308944.1:p.Asp689Asn
NM_001322007.2:c.2056G>A	NP_001308936.1:p.Asp686Asn