Canonical Allele Identifier: CA366737914

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1055941
• ClinVar RCV Id: RCV001364694 ; RCV003346519
• dbSNP Id: rs2128702863
• gnomAD v4: 7-5982863-A-G
• MyVariant Identifiers: chr7:g.6022494A>G (hg19) ; chr7:g.5982863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982863A>G , CM000669.2:g.5982863A>G	GRCh38
NC_000007.13:g.6022494A>G , CM000669.1:g.6022494A>G	GRCh37
NC_000007.12:g.5989020A>G	NCBI36
NG_008466.1:g.31244T>C , LRG_161:g.31244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1531T>C	ENSP00000514615.2:n.*1531T>C
ENST00000699840.2:c.2132T>C	ENSP00000514638.2:p.Leu711Pro
ENST00000699930.2:c.2027T>C	ENSP00000514695.2:p.Leu676Pro
ENST00000406569.8:c.1678+4224T>C	ENSP00000514464.1:n.1678+4224T>C
ENST00000644110.2:c.*1729T>C	ENSP00000496392.2:n.*1729T>C
ENST00000699752.1:c.1979T>C	ENSP00000514561.1:p.Leu660Pro
ENST00000699753.1:c.*1556T>C	ENSP00000514562.1:n.*1556T>C
ENST00000699754.1:c.1937T>C	ENSP00000514563.1:p.Leu646Pro
ENST00000699755.1:c.*1534T>C	ENSP00000514564.1:n.*1534T>C
ENST00000699756.1:c.*1722T>C	ENSP00000514565.1:n.*1722T>C
ENST00000699757.1:c.*1392T>C	ENSP00000514566.1:n.*1392T>C
ENST00000699758.1:c.*1392T>C	ENSP00000514567.1:n.*1392T>C
ENST00000699759.1:n.2989T>C
ENST00000699760.1:c.1817T>C	ENSP00000514568.1:p.Leu606Pro
ENST00000699761.1:c.1730T>C	ENSP00000514569.1:p.Leu577Pro
ENST00000699762.1:c.1562T>C	ENSP00000514570.1:p.Leu521Pro
ENST00000699763.1:c.*1225T>C	ENSP00000514571.1:n.*1225T>C
ENST00000699764.1:c.*453T>C	ENSP00000514572.1:n.*453T>C
ENST00000699765.1:c.*1231T>C	ENSP00000514573.1:n.*1231T>C
ENST00000699766.1:c.2135T>C	ENSP00000514574.1:p.Leu712Pro
ENST00000699767.1:c.2135T>C	ENSP00000514575.1:p.Leu712Pro
ENST00000699768.1:c.2135T>C	ENSP00000514576.1:p.Leu712Pro
ENST00000699811.1:c.1730T>C	ENSP00000514614.1:p.Leu577Pro
ENST00000699813.1:n.2248T>C
ENST00000699814.1:c.1758T>C
ENST00000699815.1:c.*1666T>C	ENSP00000514616.1:n.*1666T>C
ENST00000699816.1:c.*1025T>C	ENSP00000514617.1:n.*1025T>C
ENST00000699817.1:c.*1729T>C	ENSP00000514618.1:n.*1729T>C
ENST00000699818.1:c.1730T>C	ENSP00000514619.1:p.Leu577Pro
ENST00000699819.1:c.*1292T>C	ENSP00000514620.1:n.*1292T>C
ENST00000699820.1:c.*73T>C	ENSP00000514621.1:n.*73T>C
ENST00000699821.1:c.1730T>C	ENSP00000514622.1:p.Leu577Pro
ENST00000699822.1:c.*1587T>C	ENSP00000514623.1:n.*1587T>C
ENST00000699823.1:c.1730T>C	ENSP00000514624.1:p.Leu577Pro
ENST00000699824.1:c.*1638T>C	ENSP00000514625.1:n.*1638T>C
ENST00000699825.1:c.1574T>C	ENSP00000514626.1:p.Leu525Pro
ENST00000699826.1:c.*1534T>C	ENSP00000514627.1:n.*1534T>C
ENST00000699827.1:c.1967T>C	ENSP00000514628.1:p.Leu656Pro
ENST00000699828.1:c.*1225T>C	ENSP00000514629.1:n.*1225T>C
ENST00000699833.1:n.3907T>C
ENST00000699837.1:c.1730T>C	ENSP00000514635.1:p.Leu577Pro
ENST00000699838.1:c.*2035T>C	ENSP00000514636.1:n.*2035T>C
ENST00000699839.1:c.2321T>C	ENSP00000514637.1:p.Leu774Pro
ENST00000699916.1:c.*1392T>C	ENSP00000514684.1:n.*1392T>C
ENST00000699917.1:c.*1584T>C	ENSP00000514685.1:n.*1584T>C
ENST00000699918.1:c.*1636T>C	ENSP00000514686.1:n.*1636T>C
ENST00000699919.1:c.*1722T>C	ENSP00000514687.1:n.*1722T>C
ENST00000699920.1:c.*1771T>C	ENSP00000514688.1:n.*1771T>C
ENST00000699928.1:c.*73T>C	ENSP00000514693.1:n.*73T>C
ENST00000699951.1:c.*1231T>C	ENSP00000514706.1:n.*1231T>C
ENST00000699952.1:c.804-9321T>C	ENSP00000514707.1:n.804-9321T>C
ENST00000265849.12:c.2135T>C MANE Select	ENSP00000265849.7:p.Leu712Pro
ENST00000642292.1:c.1730T>C	ENSP00000495524.1:p.Leu577Pro
ENST00000642456.1:c.1730T>C	ENSP00000493814.1:p.Leu577Pro
ENST00000643595.1:c.*1534T>C	ENSP00000494497.1:n.*1534T>C
ENST00000644110.1:c.1817T>C	ENSP00000496392.1:p.Leu606Pro
ENST00000265849.11:c.2135T>C	ENSP00000265849.7:p.Leu712Pro
ENST00000382321.5:c.932T>C	ENSP00000371758.4:p.Leu311Pro
ENST00000406569.7:n.1678+4224T>C
ENST00000441476.6:c.1817T>C	ENSP00000392843.2:p.Leu606Pro
NM_000535.5:c.2135T>C , LRG_161t1:c.2135T>C	NP_000526.1:p.Leu712Pro
NR_003085.2:n.2217T>C
XM_006715742.2:c.2129T>C	XP_006715805.1:p.Leu710Pro
XM_006715744.2:c.1202T>C	XP_006715807.1:p.Leu401Pro
XM_011515427.1:c.2180T>C	XP_011513729.1:p.Leu727Pro
XM_011515428.1:c.2024T>C	XP_011513730.1:p.Leu675Pro
XM_011515429.1:c.1817T>C	XP_011513731.1:p.Leu606Pro
XM_011515430.1:c.1817T>C	XP_011513732.1:p.Leu606Pro
NM_000535.6:c.2135T>C	NP_000526.2:p.Leu712Pro
NM_001322003.1:c.1730T>C	NP_001308932.1:p.Leu577Pro
NM_001322004.1:c.1730T>C	NP_001308933.1:p.Leu577Pro
NM_001322005.1:c.1730T>C	NP_001308934.1:p.Leu577Pro
NM_001322006.1:c.1979T>C	NP_001308935.1:p.Leu660Pro
NM_001322007.1:c.1817T>C	NP_001308936.1:p.Leu606Pro
NM_001322008.1:c.1817T>C	NP_001308937.1:p.Leu606Pro
NM_001322009.1:c.1730T>C	NP_001308938.1:p.Leu577Pro
NM_001322010.1:c.1574T>C	NP_001308939.1:p.Leu525Pro
NM_001322011.1:c.1202T>C	NP_001308940.1:p.Leu401Pro
NM_001322012.1:c.1202T>C	NP_001308941.1:p.Leu401Pro
NM_001322013.1:c.1562T>C	NP_001308942.1:p.Leu521Pro
NM_001322014.1:c.2135T>C	NP_001308943.1:p.Leu712Pro
NM_001322015.1:c.1826T>C	NP_001308944.1:p.Leu609Pro
NR_136154.1:n.2222T>C
XM_006715744.4:c.1202T>C	XP_006715807.1:p.Leu401Pro
XM_017012342.2:c.1202T>C	XP_016867831.1:p.Leu401Pro
XM_024446800.1:c.1574T>C	XP_024302568.1:p.Leu525Pro
NM_000535.7:c.2135T>C MANE Select	NP_000526.2:p.Leu712Pro
NM_001322003.2:c.1730T>C	NP_001308932.1:p.Leu577Pro
NM_001322004.2:c.1730T>C	NP_001308933.1:p.Leu577Pro
NM_001322005.2:c.1730T>C	NP_001308934.1:p.Leu577Pro
NM_001322006.2:c.1979T>C	NP_001308935.1:p.Leu660Pro
NM_001322008.2:c.1817T>C	NP_001308937.1:p.Leu606Pro
NM_001322009.2:c.1730T>C	NP_001308938.1:p.Leu577Pro
NM_001322010.2:c.1574T>C	NP_001308939.1:p.Leu525Pro
NM_001322011.2:c.1202T>C	NP_001308940.1:p.Leu401Pro
NM_001322012.2:c.1202T>C	NP_001308941.1:p.Leu401Pro
NM_001322013.2:c.1562T>C	NP_001308942.1:p.Leu521Pro
NM_001322014.2:c.2135T>C	NP_001308943.1:p.Leu712Pro
NM_001322015.2:c.1826T>C	NP_001308944.1:p.Leu609Pro
NM_001322007.2:c.1817T>C	NP_001308936.1:p.Leu606Pro