Canonical Allele Identifier: CA366739697

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1492854
• ClinVar RCV Id: RCV001981285 ; RCV002407258
• dbSNP Id: rs199700509
• MyVariant Identifiers: chr7:g.6026568T>G (hg19) ; chr7:g.5986937T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986937T>G , CM000669.2:g.5986937T>G	GRCh38
NC_000007.13:g.6026568T>G , CM000669.1:g.6026568T>G	GRCh37
NC_000007.12:g.5993094T>G	NCBI36
NG_008466.1:g.27170A>C , LRG_161:g.27170A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1224A>C	ENSP00000514615.2:n.*1224A>C
ENST00000699840.2:c.1825A>C	ENSP00000514638.2:p.Lys609Gln
ENST00000699930.2:c.1720A>C	ENSP00000514695.2:p.Lys574Gln
ENST00000406569.8:c.1678+150A>C	ENSP00000514464.1:n.1678+150A>C
ENST00000644110.2:c.*1422A>C	ENSP00000496392.2:n.*1422A>C
ENST00000699752.1:c.1672A>C	ENSP00000514561.1:p.Lys558Gln
ENST00000699753.1:c.*1249A>C	ENSP00000514562.1:n.*1249A>C
ENST00000699754.1:c.1630A>C	ENSP00000514563.1:p.Lys544Gln
ENST00000699755.1:c.*1227A>C	ENSP00000514564.1:n.*1227A>C
ENST00000699756.1:c.*1415A>C	ENSP00000514565.1:n.*1415A>C
ENST00000699757.1:c.*1085A>C	ENSP00000514566.1:n.*1085A>C
ENST00000699758.1:c.*1085A>C	ENSP00000514567.1:n.*1085A>C
ENST00000699759.1:n.2682A>C
ENST00000699760.1:c.1510A>C	ENSP00000514568.1:p.Lys504Gln
ENST00000699761.1:c.1423A>C	ENSP00000514569.1:p.Lys475Gln
ENST00000699762.1:c.1255A>C	ENSP00000514570.1:p.Lys419Gln
ENST00000699763.1:c.*918A>C	ENSP00000514571.1:n.*918A>C
ENST00000699764.1:c.*146A>C	ENSP00000514572.1:n.*146A>C
ENST00000699765.1:c.*924A>C	ENSP00000514573.1:n.*924A>C
ENST00000699766.1:c.1828A>C	ENSP00000514574.1:p.Lys610Gln
ENST00000699767.1:c.1828A>C	ENSP00000514575.1:p.Lys610Gln
ENST00000699768.1:c.1828A>C	ENSP00000514576.1:p.Lys610Gln
ENST00000699811.1:c.1423A>C	ENSP00000514614.1:p.Lys475Gln
ENST00000699813.1:n.1941A>C
ENST00000699814.1:c.1451A>C
ENST00000699815.1:c.*1359A>C	ENSP00000514616.1:n.*1359A>C
ENST00000699816.1:c.*718A>C	ENSP00000514617.1:n.*718A>C
ENST00000699817.1:c.*1422A>C	ENSP00000514618.1:n.*1422A>C
ENST00000699818.1:c.1423A>C	ENSP00000514619.1:p.Lys475Gln
ENST00000699819.1:c.*985A>C	ENSP00000514620.1:n.*985A>C
ENST00000699820.1:c.1144+2863A>C	ENSP00000514621.1:n.1144+2863A>C
ENST00000699821.1:c.1423A>C	ENSP00000514622.1:p.Lys475Gln
ENST00000699822.1:c.*1280A>C	ENSP00000514623.1:n.*1280A>C
ENST00000699823.1:c.1423A>C	ENSP00000514624.1:p.Lys475Gln
ENST00000699824.1:c.*1331A>C	ENSP00000514625.1:n.*1331A>C
ENST00000699825.1:c.1267A>C	ENSP00000514626.1:p.Lys423Gln
ENST00000699826.1:c.*1227A>C	ENSP00000514627.1:n.*1227A>C
ENST00000699827.1:c.1660A>C	ENSP00000514628.1:p.Lys554Gln
ENST00000699828.1:c.*918A>C	ENSP00000514629.1:n.*918A>C
ENST00000699833.1:n.3600A>C
ENST00000699837.1:c.1423A>C	ENSP00000514635.1:p.Lys475Gln
ENST00000699838.1:c.*1728A>C	ENSP00000514636.1:n.*1728A>C
ENST00000699839.1:c.2014A>C	ENSP00000514637.1:p.Lys672Gln
ENST00000699916.1:c.*1085A>C	ENSP00000514684.1:n.*1085A>C
ENST00000699917.1:c.*1277A>C	ENSP00000514685.1:n.*1277A>C
ENST00000699918.1:c.*1329A>C	ENSP00000514686.1:n.*1329A>C
ENST00000699919.1:c.*1415A>C	ENSP00000514687.1:n.*1415A>C
ENST00000699920.1:c.*1464A>C	ENSP00000514688.1:n.*1464A>C
ENST00000699928.1:c.989-3946A>C	ENSP00000514693.1:n.989-3946A>C
ENST00000699951.1:c.*924A>C	ENSP00000514706.1:n.*924A>C
ENST00000699952.1:c.803+10389A>C	ENSP00000514707.1:n.803+10389A>C
ENST00000265849.12:c.1828A>C MANE Select	ENSP00000265849.7:p.Lys610Gln
ENST00000642292.1:c.1423A>C	ENSP00000495524.1:p.Lys475Gln
ENST00000642456.1:c.1423A>C	ENSP00000493814.1:p.Lys475Gln
ENST00000643595.1:c.*1227A>C	ENSP00000494497.1:n.*1227A>C
ENST00000644110.1:c.1510A>C	ENSP00000496392.1:p.Lys504Gln
ENST00000265849.11:c.1828A>C	ENSP00000265849.7:p.Lys610Gln
ENST00000382321.5:c.804-3946A>C	ENSP00000371758.4:n.804-3946A>C
ENST00000406569.7:n.1678+150A>C
ENST00000441476.6:c.1510A>C	ENSP00000392843.2:p.Lys504Gln
ENST00000469652.1:n.63-4032A>C
NM_000535.5:c.1828A>C , LRG_161t1:c.1828A>C	NP_000526.1:p.Lys610Gln
NR_003085.2:n.1910A>C
XM_006715742.2:c.1822A>C	XP_006715805.1:p.Lys608Gln
XM_006715744.2:c.895A>C	XP_006715807.1:p.Lys299Gln
XM_011515427.1:c.1873A>C	XP_011513729.1:p.Lys625Gln
XM_011515428.1:c.1717A>C	XP_011513730.1:p.Lys573Gln
XM_011515429.1:c.1510A>C	XP_011513731.1:p.Lys504Gln
XM_011515430.1:c.1510A>C	XP_011513732.1:p.Lys504Gln
NM_000535.6:c.1828A>C	NP_000526.2:p.Lys610Gln
NM_001322003.1:c.1423A>C	NP_001308932.1:p.Lys475Gln
NM_001322004.1:c.1423A>C	NP_001308933.1:p.Lys475Gln
NM_001322005.1:c.1423A>C	NP_001308934.1:p.Lys475Gln
NM_001322006.1:c.1672A>C	NP_001308935.1:p.Lys558Gln
NM_001322007.1:c.1510A>C	NP_001308936.1:p.Lys504Gln
NM_001322008.1:c.1510A>C	NP_001308937.1:p.Lys504Gln
NM_001322009.1:c.1423A>C	NP_001308938.1:p.Lys475Gln
NM_001322010.1:c.1267A>C	NP_001308939.1:p.Lys423Gln
NM_001322011.1:c.895A>C	NP_001308940.1:p.Lys299Gln
NM_001322012.1:c.895A>C	NP_001308941.1:p.Lys299Gln
NM_001322013.1:c.1255A>C	NP_001308942.1:p.Lys419Gln
NM_001322014.1:c.1828A>C	NP_001308943.1:p.Lys610Gln
NM_001322015.1:c.1519A>C	NP_001308944.1:p.Lys507Gln
NR_136154.1:n.1915A>C
XM_006715744.4:c.895A>C	XP_006715807.1:p.Lys299Gln
XM_017012342.2:c.895A>C	XP_016867831.1:p.Lys299Gln
XM_024446800.1:c.1267A>C	XP_024302568.1:p.Lys423Gln
NM_000535.7:c.1828A>C MANE Select	NP_000526.2:p.Lys610Gln
NM_001322003.2:c.1423A>C	NP_001308932.1:p.Lys475Gln
NM_001322004.2:c.1423A>C	NP_001308933.1:p.Lys475Gln
NM_001322005.2:c.1423A>C	NP_001308934.1:p.Lys475Gln
NM_001322006.2:c.1672A>C	NP_001308935.1:p.Lys558Gln
NM_001322008.2:c.1510A>C	NP_001308937.1:p.Lys504Gln
NM_001322009.2:c.1423A>C	NP_001308938.1:p.Lys475Gln
NM_001322010.2:c.1267A>C	NP_001308939.1:p.Lys423Gln
NM_001322011.2:c.895A>C	NP_001308940.1:p.Lys299Gln
NM_001322012.2:c.895A>C	NP_001308941.1:p.Lys299Gln
NM_001322013.2:c.1255A>C	NP_001308942.1:p.Lys419Gln
NM_001322014.2:c.1828A>C	NP_001308943.1:p.Lys610Gln
NM_001322015.2:c.1519A>C	NP_001308944.1:p.Lys507Gln
NM_001322007.2:c.1510A>C	NP_001308936.1:p.Lys504Gln