Canonical Allele Identifier: CA453642032

Gene: PMS2

Linked Data

• ClinVar Variation Id: 821447
• ClinVar RCV Id: RCV001015868 ; RCV002068923
• dbSNP Id: rs1583269135
• MyVariant Identifiers: chr7:g.6013075T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973444T>C , CM000669.2:g.5973444T>C	GRCh38
NC_000007.13:g.6013075T>C , CM000669.1:g.6013075T>C	GRCh37
NC_000007.12:g.5979601T>C	NCBI36
NG_008466.1:g.40663A>G , LRG_161:g.40663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1940A>G	ENSP00000514615.2:n.*1940A>G
ENST00000699840.2:c.2541A>G	ENSP00000514638.2:p.Pro847=
ENST00000699930.2:c.2436A>G	ENSP00000514695.2:p.Pro812=
ENST00000406569.8:c.1904A>G	ENSP00000514464.1:n.1904A>G
ENST00000644110.2:c.*2138A>G	ENSP00000496392.2:n.*2138A>G
ENST00000699752.1:c.2388A>G	ENSP00000514561.1:p.Pro796=
ENST00000699753.1:c.*1965A>G	ENSP00000514562.1:n.*1965A>G
ENST00000699754.1:c.2346A>G	ENSP00000514563.1:p.Pro782=
ENST00000699755.1:c.*1943A>G	ENSP00000514564.1:n.*1943A>G
ENST00000699756.1:c.*2131A>G	ENSP00000514565.1:n.*2131A>G
ENST00000699757.1:c.*1801A>G	ENSP00000514566.1:n.*1801A>G
ENST00000699758.1:c.*1801A>G	ENSP00000514567.1:n.*1801A>G
ENST00000699759.1:n.3398A>G
ENST00000699760.1:c.2226A>G	ENSP00000514568.1:p.Pro742=
ENST00000699761.1:c.2139A>G	ENSP00000514569.1:p.Pro713=
ENST00000699762.1:c.1971A>G	ENSP00000514570.1:p.Pro657=
ENST00000699763.1:c.*1634A>G	ENSP00000514571.1:n.*1634A>G
ENST00000699764.1:c.*862A>G	ENSP00000514572.1:n.*862A>G
ENST00000699765.1:c.*1539A>G	ENSP00000514573.1:n.*1539A>G
ENST00000699766.1:c.2577A>G	ENSP00000514574.1:p.Pro859=
ENST00000699767.1:c.*185A>G	ENSP00000514575.1:n.*185A>G
ENST00000699768.1:c.2400A>G	ENSP00000514576.1:p.Pro800=
ENST00000699811.1:c.2139A>G	ENSP00000514614.1:p.Pro713=
ENST00000699813.1:n.2657A>G
ENST00000699814.1:c.2167A>G
ENST00000699815.1:c.*2075A>G	ENSP00000514616.1:n.*2075A>G
ENST00000699816.1:c.*1434A>G	ENSP00000514617.1:n.*1434A>G
ENST00000699817.1:c.*2138A>G	ENSP00000514618.1:n.*2138A>G
ENST00000699818.1:c.2139A>G	ENSP00000514619.1:p.Pro713=
ENST00000699819.1:c.*1701A>G	ENSP00000514620.1:n.*1701A>G
ENST00000699820.1:c.*482A>G	ENSP00000514621.1:n.*482A>G
ENST00000699821.1:c.2172A>G	ENSP00000514622.1:p.Pro724=
ENST00000699822.1:c.*1996A>G	ENSP00000514623.1:n.*1996A>G
ENST00000699823.1:c.2139A>G	ENSP00000514624.1:p.Pro713=
ENST00000699824.1:c.*2047A>G	ENSP00000514625.1:n.*2047A>G
ENST00000699825.1:c.1983A>G	ENSP00000514626.1:p.Pro661=
ENST00000699826.1:c.*1943A>G	ENSP00000514627.1:n.*1943A>G
ENST00000699827.1:c.2376A>G	ENSP00000514628.1:p.Pro792=
ENST00000699828.1:c.*1634A>G	ENSP00000514629.1:n.*1634A>G
ENST00000699833.1:n.4316A>G
ENST00000699837.1:c.2139A>G	ENSP00000514635.1:p.Pro713=
ENST00000699838.1:c.*2444A>G	ENSP00000514636.1:n.*2444A>G
ENST00000699839.1:c.2730A>G	ENSP00000514637.1:p.Pro910=
ENST00000699916.1:c.*1801A>G	ENSP00000514684.1:n.*1801A>G
ENST00000699917.1:c.*1993A>G	ENSP00000514685.1:n.*1993A>G
ENST00000699918.1:c.*2045A>G	ENSP00000514686.1:n.*2045A>G
ENST00000699919.1:c.*2131A>G	ENSP00000514687.1:n.*2131A>G
ENST00000699920.1:c.*2180A>G	ENSP00000514688.1:n.*2180A>G
ENST00000699928.1:c.*482A>G	ENSP00000514693.1:n.*482A>G
ENST00000699951.1:c.*1597A>G	ENSP00000514706.1:n.*1597A>G
ENST00000699952.1:c.*98A>G	ENSP00000514707.1:n.*98A>G
ENST00000265849.12:c.2544A>G MANE Select	ENSP00000265849.7:p.Pro848=
ENST00000642292.1:c.2139A>G	ENSP00000495524.1:p.Pro713=
ENST00000642456.1:c.2139A>G	ENSP00000493814.1:p.Pro713=
ENST00000643595.1:c.*1943A>G	ENSP00000494497.1:n.*1943A>G
ENST00000644110.1:c.2226A>G	ENSP00000496392.1:p.Pro742=
ENST00000265849.11:c.2544A>G	ENSP00000265849.7:p.Pro848=
ENST00000382321.5:c.1341A>G	ENSP00000371758.4:p.Pro447=
ENST00000441476.6:c.2226A>G	ENSP00000392843.2:p.Pro742=
NM_000535.5:c.2544A>G , LRG_161t1:c.2544A>G	NP_000526.1:p.Pro848=
NR_003085.2:n.2626A>G
XM_006715742.2:c.2538A>G	XP_006715805.1:p.Pro846=
XM_006715744.2:c.1611A>G	XP_006715807.1:p.Pro537=
XM_011515427.1:c.2589A>G	XP_011513729.1:p.Pro863=
XM_011515428.1:c.2433A>G	XP_011513730.1:p.Pro811=
XM_011515429.1:c.2226A>G	XP_011513731.1:p.Pro742=
XM_011515430.1:c.2226A>G	XP_011513732.1:p.Pro742=
NM_000535.6:c.2544A>G	NP_000526.2:p.Pro848=
NM_001322003.1:c.2139A>G	NP_001308932.1:p.Pro713=
NM_001322004.1:c.2139A>G	NP_001308933.1:p.Pro713=
NM_001322005.1:c.2139A>G	NP_001308934.1:p.Pro713=
NM_001322006.1:c.2388A>G	NP_001308935.1:p.Pro796=
NM_001322007.1:c.2226A>G	NP_001308936.1:p.Pro742=
NM_001322008.1:c.2226A>G	NP_001308937.1:p.Pro742=
NM_001322009.1:c.2172A>G	NP_001308938.1:p.Pro724=
NM_001322010.1:c.1983A>G	NP_001308939.1:p.Pro661=
NM_001322011.1:c.1611A>G	NP_001308940.1:p.Pro537=
NM_001322012.1:c.1611A>G	NP_001308941.1:p.Pro537=
NM_001322013.1:c.1971A>G	NP_001308942.1:p.Pro657=
NM_001322014.1:c.2577A>G	NP_001308943.1:p.Pro859=
NM_001322015.1:c.2235A>G	NP_001308944.1:p.Pro745=
NR_136154.1:n.2588A>G
XM_006715744.4:c.1611A>G	XP_006715807.1:p.Pro537=
XM_017012342.2:c.1611A>G	XP_016867831.1:p.Pro537=
XM_024446800.1:c.1983A>G	XP_024302568.1:p.Pro661=
NM_000535.7:c.2544A>G MANE Select	NP_000526.2:p.Pro848=
NM_001322003.2:c.2139A>G	NP_001308932.1:p.Pro713=
NM_001322004.2:c.2139A>G	NP_001308933.1:p.Pro713=
NM_001322005.2:c.2139A>G	NP_001308934.1:p.Pro713=
NM_001322006.2:c.2388A>G	NP_001308935.1:p.Pro796=
NM_001322008.2:c.2226A>G	NP_001308937.1:p.Pro742=
NM_001322009.2:c.2172A>G	NP_001308938.1:p.Pro724=
NM_001322010.2:c.1983A>G	NP_001308939.1:p.Pro661=
NM_001322011.2:c.1611A>G	NP_001308940.1:p.Pro537=
NM_001322012.2:c.1611A>G	NP_001308941.1:p.Pro537=
NM_001322013.2:c.1971A>G	NP_001308942.1:p.Pro657=
NM_001322014.2:c.2577A>G	NP_001308943.1:p.Pro859=
NM_001322015.2:c.2235A>G	NP_001308944.1:p.Pro745=
NM_001322007.2:c.2226A>G	NP_001308936.1:p.Pro742=