Canonical Allele Identifier: CA16618491

Gene: PMS2

Linked Data

• ClinVar Variation Id: 422283
• ClinVar RCV Id: RCV000485467 ; RCV002420234
• dbSNP Id: rs370196722
• gnomAD v4: 7-5982890-G-T
• MyVariant Identifiers: chr7:g.6022521G>T (hg19) ; chr7:g.5982890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982890G>T , CM000669.2:g.5982890G>T	GRCh38
NC_000007.13:g.6022521G>T , CM000669.1:g.6022521G>T	GRCh37
NC_000007.12:g.5989047G>T	NCBI36
NG_008466.1:g.31217C>A , LRG_161:g.31217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1504C>A	ENSP00000514615.2:n.*1504C>A
ENST00000699840.2:c.2105C>A	ENSP00000514638.2:p.Thr702Lys
ENST00000699930.2:c.2000C>A	ENSP00000514695.2:p.Thr667Lys
ENST00000406569.8:c.1678+4197C>A	ENSP00000514464.1:n.1678+4197C>A
ENST00000644110.2:c.*1702C>A	ENSP00000496392.2:n.*1702C>A
ENST00000699752.1:c.1952C>A	ENSP00000514561.1:p.Thr651Lys
ENST00000699753.1:c.*1529C>A	ENSP00000514562.1:n.*1529C>A
ENST00000699754.1:c.1910C>A	ENSP00000514563.1:p.Thr637Lys
ENST00000699755.1:c.*1507C>A	ENSP00000514564.1:n.*1507C>A
ENST00000699756.1:c.*1695C>A	ENSP00000514565.1:n.*1695C>A
ENST00000699757.1:c.*1365C>A	ENSP00000514566.1:n.*1365C>A
ENST00000699758.1:c.*1365C>A	ENSP00000514567.1:n.*1365C>A
ENST00000699759.1:n.2962C>A
ENST00000699760.1:c.1790C>A	ENSP00000514568.1:p.Thr597Lys
ENST00000699761.1:c.1703C>A	ENSP00000514569.1:p.Thr568Lys
ENST00000699762.1:c.1535C>A	ENSP00000514570.1:p.Thr512Lys
ENST00000699763.1:c.*1198C>A	ENSP00000514571.1:n.*1198C>A
ENST00000699764.1:c.*426C>A	ENSP00000514572.1:n.*426C>A
ENST00000699765.1:c.*1204C>A	ENSP00000514573.1:n.*1204C>A
ENST00000699766.1:c.2108C>A	ENSP00000514574.1:p.Thr703Lys
ENST00000699767.1:c.2108C>A	ENSP00000514575.1:p.Thr703Lys
ENST00000699768.1:c.2108C>A	ENSP00000514576.1:p.Thr703Lys
ENST00000699811.1:c.1703C>A	ENSP00000514614.1:p.Thr568Lys
ENST00000699813.1:n.2221C>A
ENST00000699814.1:c.1731C>A
ENST00000699815.1:c.*1639C>A	ENSP00000514616.1:n.*1639C>A
ENST00000699816.1:c.*998C>A	ENSP00000514617.1:n.*998C>A
ENST00000699817.1:c.*1702C>A	ENSP00000514618.1:n.*1702C>A
ENST00000699818.1:c.1703C>A	ENSP00000514619.1:p.Thr568Lys
ENST00000699819.1:c.*1265C>A	ENSP00000514620.1:n.*1265C>A
ENST00000699820.1:c.*46C>A	ENSP00000514621.1:n.*46C>A
ENST00000699821.1:c.1703C>A	ENSP00000514622.1:p.Thr568Lys
ENST00000699822.1:c.*1560C>A	ENSP00000514623.1:n.*1560C>A
ENST00000699823.1:c.1703C>A	ENSP00000514624.1:p.Thr568Lys
ENST00000699824.1:c.*1611C>A	ENSP00000514625.1:n.*1611C>A
ENST00000699825.1:c.1547C>A	ENSP00000514626.1:p.Thr516Lys
ENST00000699826.1:c.*1507C>A	ENSP00000514627.1:n.*1507C>A
ENST00000699827.1:c.1940C>A	ENSP00000514628.1:p.Thr647Lys
ENST00000699828.1:c.*1198C>A	ENSP00000514629.1:n.*1198C>A
ENST00000699833.1:n.3880C>A
ENST00000699837.1:c.1703C>A	ENSP00000514635.1:p.Thr568Lys
ENST00000699838.1:c.*2008C>A	ENSP00000514636.1:n.*2008C>A
ENST00000699839.1:c.2294C>A	ENSP00000514637.1:p.Thr765Lys
ENST00000699916.1:c.*1365C>A	ENSP00000514684.1:n.*1365C>A
ENST00000699917.1:c.*1557C>A	ENSP00000514685.1:n.*1557C>A
ENST00000699918.1:c.*1609C>A	ENSP00000514686.1:n.*1609C>A
ENST00000699919.1:c.*1695C>A	ENSP00000514687.1:n.*1695C>A
ENST00000699920.1:c.*1744C>A	ENSP00000514688.1:n.*1744C>A
ENST00000699928.1:c.*46C>A	ENSP00000514693.1:n.*46C>A
ENST00000699951.1:c.*1204C>A	ENSP00000514706.1:n.*1204C>A
ENST00000699952.1:c.804-9348C>A	ENSP00000514707.1:n.804-9348C>A
ENST00000265849.12:c.2108C>A MANE Select	ENSP00000265849.7:p.Thr703Lys
ENST00000642292.1:c.1703C>A	ENSP00000495524.1:p.Thr568Lys
ENST00000642456.1:c.1703C>A	ENSP00000493814.1:p.Thr568Lys
ENST00000643595.1:c.*1507C>A	ENSP00000494497.1:n.*1507C>A
ENST00000644110.1:c.1790C>A	ENSP00000496392.1:p.Thr597Lys
ENST00000265849.11:c.2108C>A	ENSP00000265849.7:p.Thr703Lys
ENST00000382321.5:c.905C>A	ENSP00000371758.4:p.Thr302Lys
ENST00000406569.7:n.1678+4197C>A
ENST00000441476.6:c.1790C>A	ENSP00000392843.2:p.Thr597Lys
ENST00000469652.1:n.78C>A
NM_000535.5:c.2108C>A , LRG_161t1:c.2108C>A	NP_000526.1:p.Thr703Lys
NR_003085.2:n.2190C>A
XM_006715742.2:c.2102C>A	XP_006715805.1:p.Thr701Lys
XM_006715744.2:c.1175C>A	XP_006715807.1:p.Thr392Lys
XM_011515427.1:c.2153C>A	XP_011513729.1:p.Thr718Lys
XM_011515428.1:c.1997C>A	XP_011513730.1:p.Thr666Lys
XM_011515429.1:c.1790C>A	XP_011513731.1:p.Thr597Lys
XM_011515430.1:c.1790C>A	XP_011513732.1:p.Thr597Lys
NM_000535.6:c.2108C>A	NP_000526.2:p.Thr703Lys
NM_001322003.1:c.1703C>A	NP_001308932.1:p.Thr568Lys
NM_001322004.1:c.1703C>A	NP_001308933.1:p.Thr568Lys
NM_001322005.1:c.1703C>A	NP_001308934.1:p.Thr568Lys
NM_001322006.1:c.1952C>A	NP_001308935.1:p.Thr651Lys
NM_001322007.1:c.1790C>A	NP_001308936.1:p.Thr597Lys
NM_001322008.1:c.1790C>A	NP_001308937.1:p.Thr597Lys
NM_001322009.1:c.1703C>A	NP_001308938.1:p.Thr568Lys
NM_001322010.1:c.1547C>A	NP_001308939.1:p.Thr516Lys
NM_001322011.1:c.1175C>A	NP_001308940.1:p.Thr392Lys
NM_001322012.1:c.1175C>A	NP_001308941.1:p.Thr392Lys
NM_001322013.1:c.1535C>A	NP_001308942.1:p.Thr512Lys
NM_001322014.1:c.2108C>A	NP_001308943.1:p.Thr703Lys
NM_001322015.1:c.1799C>A	NP_001308944.1:p.Thr600Lys
NR_136154.1:n.2195C>A
XM_006715744.4:c.1175C>A	XP_006715807.1:p.Thr392Lys
XM_017012342.2:c.1175C>A	XP_016867831.1:p.Thr392Lys
XM_024446800.1:c.1547C>A	XP_024302568.1:p.Thr516Lys
NM_000535.7:c.2108C>A MANE Select	NP_000526.2:p.Thr703Lys
NM_001322003.2:c.1703C>A	NP_001308932.1:p.Thr568Lys
NM_001322004.2:c.1703C>A	NP_001308933.1:p.Thr568Lys
NM_001322005.2:c.1703C>A	NP_001308934.1:p.Thr568Lys
NM_001322006.2:c.1952C>A	NP_001308935.1:p.Thr651Lys
NM_001322008.2:c.1790C>A	NP_001308937.1:p.Thr597Lys
NM_001322009.2:c.1703C>A	NP_001308938.1:p.Thr568Lys
NM_001322010.2:c.1547C>A	NP_001308939.1:p.Thr516Lys
NM_001322011.2:c.1175C>A	NP_001308940.1:p.Thr392Lys
NM_001322012.2:c.1175C>A	NP_001308941.1:p.Thr392Lys
NM_001322013.2:c.1535C>A	NP_001308942.1:p.Thr512Lys
NM_001322014.2:c.2108C>A	NP_001308943.1:p.Thr703Lys
NM_001322015.2:c.1799C>A	NP_001308944.1:p.Thr600Lys
NM_001322007.2:c.1790C>A	NP_001308936.1:p.Thr597Lys