Canonical Allele Identifier: CA366735602

Gene: PMS2

Linked Data

• dbSNP Id: rs1781819591
• MyVariant Identifiers: chr7:g.6017241G>C (hg19) ; chr7:g.5977610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977610G>C , CM000669.2:g.5977610G>C	GRCh38
NC_000007.13:g.6017241G>C , CM000669.1:g.6017241G>C	GRCh37
NC_000007.12:g.5983767G>C	NCBI36
NG_008466.1:g.36497C>G , LRG_161:g.36497C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1819C>G	ENSP00000514615.2:n.*1819C>G
ENST00000699840.2:c.2420C>G	ENSP00000514638.2:p.Ala807Gly
ENST00000699930.2:c.2315C>G	ENSP00000514695.2:p.Ala772Gly
ENST00000406569.8:c.1783C>G	ENSP00000514464.1:n.1783C>G
ENST00000644110.2:c.*2017C>G	ENSP00000496392.2:n.*2017C>G
ENST00000699752.1:c.2267C>G	ENSP00000514561.1:p.Ala756Gly
ENST00000699753.1:c.*1844C>G	ENSP00000514562.1:n.*1844C>G
ENST00000699754.1:c.2225C>G	ENSP00000514563.1:p.Ala742Gly
ENST00000699755.1:c.*1822C>G	ENSP00000514564.1:n.*1822C>G
ENST00000699756.1:c.*2010C>G	ENSP00000514565.1:n.*2010C>G
ENST00000699757.1:c.*1680C>G	ENSP00000514566.1:n.*1680C>G
ENST00000699758.1:c.*1680C>G	ENSP00000514567.1:n.*1680C>G
ENST00000699759.1:n.3277C>G
ENST00000699760.1:c.2105C>G	ENSP00000514568.1:p.Ala702Gly
ENST00000699761.1:c.2018C>G	ENSP00000514569.1:p.Ala673Gly
ENST00000699762.1:c.1850C>G	ENSP00000514570.1:p.Ala617Gly
ENST00000699763.1:c.*1513C>G	ENSP00000514571.1:n.*1513C>G
ENST00000699764.1:c.*741C>G	ENSP00000514572.1:n.*741C>G
ENST00000699765.1:c.*1418C>G	ENSP00000514573.1:n.*1418C>G
ENST00000699766.1:c.2456C>G	ENSP00000514574.1:p.Ala819Gly
ENST00000699767.1:c.*64C>G	ENSP00000514575.1:n.*64C>G
ENST00000699768.1:c.2279C>G	ENSP00000514576.1:p.Ala760Gly
ENST00000699811.1:c.2018C>G	ENSP00000514614.1:p.Ala673Gly
ENST00000699813.1:n.2536C>G
ENST00000699814.1:c.2046C>G
ENST00000699815.1:c.*1954C>G	ENSP00000514616.1:n.*1954C>G
ENST00000699816.1:c.*1313C>G	ENSP00000514617.1:n.*1313C>G
ENST00000699817.1:c.*2017C>G	ENSP00000514618.1:n.*2017C>G
ENST00000699818.1:c.2018C>G	ENSP00000514619.1:p.Ala673Gly
ENST00000699819.1:c.*1580C>G	ENSP00000514620.1:n.*1580C>G
ENST00000699820.1:c.*361C>G	ENSP00000514621.1:n.*361C>G
ENST00000699821.1:c.2051C>G	ENSP00000514622.1:p.Ala684Gly
ENST00000699822.1:c.*1875C>G	ENSP00000514623.1:n.*1875C>G
ENST00000699823.1:c.2018C>G	ENSP00000514624.1:p.Ala673Gly
ENST00000699824.1:c.*1926C>G	ENSP00000514625.1:n.*1926C>G
ENST00000699825.1:c.1862C>G	ENSP00000514626.1:p.Ala621Gly
ENST00000699826.1:c.*1822C>G	ENSP00000514627.1:n.*1822C>G
ENST00000699827.1:c.2255C>G	ENSP00000514628.1:p.Ala752Gly
ENST00000699828.1:c.*1513C>G	ENSP00000514629.1:n.*1513C>G
ENST00000699833.1:n.4195C>G
ENST00000699837.1:c.2018C>G	ENSP00000514635.1:p.Ala673Gly
ENST00000699838.1:c.*2323C>G	ENSP00000514636.1:n.*2323C>G
ENST00000699839.1:c.2609C>G	ENSP00000514637.1:p.Ala870Gly
ENST00000699916.1:c.*1680C>G	ENSP00000514684.1:n.*1680C>G
ENST00000699917.1:c.*1872C>G	ENSP00000514685.1:n.*1872C>G
ENST00000699918.1:c.*1924C>G	ENSP00000514686.1:n.*1924C>G
ENST00000699919.1:c.*2010C>G	ENSP00000514687.1:n.*2010C>G
ENST00000699920.1:c.*2059C>G	ENSP00000514688.1:n.*2059C>G
ENST00000699928.1:c.*361C>G	ENSP00000514693.1:n.*361C>G
ENST00000699951.1:c.*1476C>G	ENSP00000514706.1:n.*1476C>G
ENST00000699952.1:c.804-4068C>G	ENSP00000514707.1:n.804-4068C>G
ENST00000265849.12:c.2423C>G MANE Select	ENSP00000265849.7:p.Ala808Gly
ENST00000642292.1:c.2018C>G	ENSP00000495524.1:p.Ala673Gly
ENST00000642456.1:c.2018C>G	ENSP00000493814.1:p.Ala673Gly
ENST00000643595.1:c.*1822C>G	ENSP00000494497.1:n.*1822C>G
ENST00000644110.1:c.2105C>G	ENSP00000496392.1:p.Ala702Gly
ENST00000265849.11:c.2423C>G	ENSP00000265849.7:p.Ala808Gly
ENST00000382321.5:c.1220C>G	ENSP00000371758.4:p.Ala407Gly
ENST00000441476.6:c.2105C>G	ENSP00000392843.2:p.Ala702Gly
NM_000535.5:c.2423C>G , LRG_161t1:c.2423C>G	NP_000526.1:p.Ala808Gly
NR_003085.2:n.2505C>G
XM_006715742.2:c.2417C>G	XP_006715805.1:p.Ala806Gly
XM_006715744.2:c.1490C>G	XP_006715807.1:p.Ala497Gly
XM_011515427.1:c.2468C>G	XP_011513729.1:p.Ala823Gly
XM_011515428.1:c.2312C>G	XP_011513730.1:p.Ala771Gly
XM_011515429.1:c.2105C>G	XP_011513731.1:p.Ala702Gly
XM_011515430.1:c.2105C>G	XP_011513732.1:p.Ala702Gly
NM_000535.6:c.2423C>G	NP_000526.2:p.Ala808Gly
NM_001322003.1:c.2018C>G	NP_001308932.1:p.Ala673Gly
NM_001322004.1:c.2018C>G	NP_001308933.1:p.Ala673Gly
NM_001322005.1:c.2018C>G	NP_001308934.1:p.Ala673Gly
NM_001322006.1:c.2267C>G	NP_001308935.1:p.Ala756Gly
NM_001322007.1:c.2105C>G	NP_001308936.1:p.Ala702Gly
NM_001322008.1:c.2105C>G	NP_001308937.1:p.Ala702Gly
NM_001322009.1:c.2051C>G	NP_001308938.1:p.Ala684Gly
NM_001322010.1:c.1862C>G	NP_001308939.1:p.Ala621Gly
NM_001322011.1:c.1490C>G	NP_001308940.1:p.Ala497Gly
NM_001322012.1:c.1490C>G	NP_001308941.1:p.Ala497Gly
NM_001322013.1:c.1850C>G	NP_001308942.1:p.Ala617Gly
NM_001322014.1:c.2456C>G	NP_001308943.1:p.Ala819Gly
NM_001322015.1:c.2114C>G	NP_001308944.1:p.Ala705Gly
NR_136154.1:n.2467C>G
XM_006715744.4:c.1490C>G	XP_006715807.1:p.Ala497Gly
XM_017012342.2:c.1490C>G	XP_016867831.1:p.Ala497Gly
XM_024446800.1:c.1862C>G	XP_024302568.1:p.Ala621Gly
NM_000535.7:c.2423C>G MANE Select	NP_000526.2:p.Ala808Gly
NM_001322003.2:c.2018C>G	NP_001308932.1:p.Ala673Gly
NM_001322004.2:c.2018C>G	NP_001308933.1:p.Ala673Gly
NM_001322005.2:c.2018C>G	NP_001308934.1:p.Ala673Gly
NM_001322006.2:c.2267C>G	NP_001308935.1:p.Ala756Gly
NM_001322008.2:c.2105C>G	NP_001308937.1:p.Ala702Gly
NM_001322009.2:c.2051C>G	NP_001308938.1:p.Ala684Gly
NM_001322010.2:c.1862C>G	NP_001308939.1:p.Ala621Gly
NM_001322011.2:c.1490C>G	NP_001308940.1:p.Ala497Gly
NM_001322012.2:c.1490C>G	NP_001308941.1:p.Ala497Gly
NM_001322013.2:c.1850C>G	NP_001308942.1:p.Ala617Gly
NM_001322014.2:c.2456C>G	NP_001308943.1:p.Ala819Gly
NM_001322015.2:c.2114C>G	NP_001308944.1:p.Ala705Gly
NM_001322007.2:c.2105C>G	NP_001308936.1:p.Ala702Gly