Canonical Allele Identifier: CA16612382

Gene: PMS2

Linked Data

• ClinVar Variation Id: 411015
• ClinVar RCV Id: RCV000477621 ; RCV000521108 ; RCV003449153
• dbSNP Id: rs1060503110
• gnomAD v4: 7-5978679-A-C
• MyVariant Identifiers: chr7:g.6018310A>C (hg19) ; chr7:g.5978679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5978679A>C , CM000669.2:g.5978679A>C	GRCh38
NC_000007.13:g.6018310A>C , CM000669.1:g.6018310A>C	GRCh37
NC_000007.12:g.5984836A>C	NCBI36
NG_008466.1:g.35428T>G , LRG_161:g.35428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1588T>G	ENSP00000514615.2:n.*1588T>G
ENST00000699840.2:c.2189T>G	ENSP00000514638.2:p.Leu730Ter
ENST00000699930.2:c.2084T>G	ENSP00000514695.2:p.Leu695Ter
ENST00000406569.8:c.1679-965T>G	ENSP00000514464.1:n.1679-965T>G
ENST00000644110.2:c.*1786T>G	ENSP00000496392.2:n.*1786T>G
ENST00000699752.1:c.2036T>G	ENSP00000514561.1:p.Leu679Ter
ENST00000699753.1:c.*1613T>G	ENSP00000514562.1:n.*1613T>G
ENST00000699754.1:c.1994T>G	ENSP00000514563.1:p.Leu665Ter
ENST00000699755.1:c.*1591T>G	ENSP00000514564.1:n.*1591T>G
ENST00000699756.1:c.*1779T>G	ENSP00000514565.1:n.*1779T>G
ENST00000699757.1:c.*1449T>G	ENSP00000514566.1:n.*1449T>G
ENST00000699758.1:c.*1449T>G	ENSP00000514567.1:n.*1449T>G
ENST00000699759.1:n.3046T>G
ENST00000699760.1:c.1874T>G	ENSP00000514568.1:p.Leu625Ter
ENST00000699761.1:c.1787T>G	ENSP00000514569.1:p.Leu596Ter
ENST00000699762.1:c.1619T>G	ENSP00000514570.1:p.Leu540Ter
ENST00000699763.1:c.*1282T>G	ENSP00000514571.1:n.*1282T>G
ENST00000699764.1:c.*510T>G	ENSP00000514572.1:n.*510T>G
ENST00000699765.1:c.*1271-922T>G	ENSP00000514573.1:n.*1271-922T>G
ENST00000699766.1:c.2192T>G	ENSP00000514574.1:p.Leu731Ter
ENST00000699767.1:c.2192T>G	ENSP00000514575.1:p.Leu731Ter
ENST00000699768.1:c.2175-965T>G	ENSP00000514576.1:n.2175-965T>G
ENST00000699811.1:c.1787T>G	ENSP00000514614.1:p.Leu596Ter
ENST00000699813.1:n.2305T>G
ENST00000699814.1:c.1815T>G
ENST00000699815.1:c.*1723T>G	ENSP00000514616.1:n.*1723T>G
ENST00000699816.1:c.*1082T>G	ENSP00000514617.1:n.*1082T>G
ENST00000699817.1:c.*1786T>G	ENSP00000514618.1:n.*1786T>G
ENST00000699818.1:c.1787T>G	ENSP00000514619.1:p.Leu596Ter
ENST00000699819.1:c.*1349T>G	ENSP00000514620.1:n.*1349T>G
ENST00000699820.1:c.*130T>G	ENSP00000514621.1:n.*130T>G
ENST00000699821.1:c.1787T>G	ENSP00000514622.1:p.Leu596Ter
ENST00000699822.1:c.*1644T>G	ENSP00000514623.1:n.*1644T>G
ENST00000699823.1:c.1787T>G	ENSP00000514624.1:p.Leu596Ter
ENST00000699824.1:c.*1695T>G	ENSP00000514625.1:n.*1695T>G
ENST00000699825.1:c.1631T>G	ENSP00000514626.1:p.Leu544Ter
ENST00000699826.1:c.*1591T>G	ENSP00000514627.1:n.*1591T>G
ENST00000699827.1:c.2024T>G	ENSP00000514628.1:p.Leu675Ter
ENST00000699828.1:c.*1282T>G	ENSP00000514629.1:n.*1282T>G
ENST00000699833.1:n.3964T>G
ENST00000699837.1:c.1787T>G	ENSP00000514635.1:p.Leu596Ter
ENST00000699838.1:c.*2092T>G	ENSP00000514636.1:n.*2092T>G
ENST00000699839.1:c.2378T>G	ENSP00000514637.1:p.Leu793Ter
ENST00000699916.1:c.*1449T>G	ENSP00000514684.1:n.*1449T>G
ENST00000699917.1:c.*1641T>G	ENSP00000514685.1:n.*1641T>G
ENST00000699918.1:c.*1693T>G	ENSP00000514686.1:n.*1693T>G
ENST00000699919.1:c.*1779T>G	ENSP00000514687.1:n.*1779T>G
ENST00000699920.1:c.*1828T>G	ENSP00000514688.1:n.*1828T>G
ENST00000699928.1:c.*130T>G	ENSP00000514693.1:n.*130T>G
ENST00000699951.1:c.*1288T>G	ENSP00000514706.1:n.*1288T>G
ENST00000699952.1:c.804-5137T>G	ENSP00000514707.1:n.804-5137T>G
ENST00000265849.12:c.2192T>G MANE Select	ENSP00000265849.7:p.Leu731Ter
ENST00000642292.1:c.1787T>G	ENSP00000495524.1:p.Leu596Ter
ENST00000642456.1:c.1787T>G	ENSP00000493814.1:p.Leu596Ter
ENST00000643595.1:c.*1591T>G	ENSP00000494497.1:n.*1591T>G
ENST00000644110.1:c.1874T>G	ENSP00000496392.1:p.Leu625Ter
ENST00000265849.11:c.2192T>G	ENSP00000265849.7:p.Leu731Ter
ENST00000382321.5:c.989T>G	ENSP00000371758.4:p.Leu330Ter
ENST00000406569.7:n.1679-965T>G
ENST00000441476.6:c.1874T>G	ENSP00000392843.2:p.Leu625Ter
NM_000535.5:c.2192T>G , LRG_161t1:c.2192T>G	NP_000526.1:p.Leu731Ter
NR_003085.2:n.2274T>G
XM_006715742.2:c.2186T>G	XP_006715805.1:p.Leu729Ter
XM_006715744.2:c.1259T>G	XP_006715807.1:p.Leu420Ter
XM_011515427.1:c.2237T>G	XP_011513729.1:p.Leu746Ter
XM_011515428.1:c.2081T>G	XP_011513730.1:p.Leu694Ter
XM_011515429.1:c.1874T>G	XP_011513731.1:p.Leu625Ter
XM_011515430.1:c.1874T>G	XP_011513732.1:p.Leu625Ter
NM_000535.6:c.2192T>G	NP_000526.2:p.Leu731Ter
NM_001322003.1:c.1787T>G	NP_001308932.1:p.Leu596Ter
NM_001322004.1:c.1787T>G	NP_001308933.1:p.Leu596Ter
NM_001322005.1:c.1787T>G	NP_001308934.1:p.Leu596Ter
NM_001322006.1:c.2036T>G	NP_001308935.1:p.Leu679Ter
NM_001322007.1:c.1874T>G	NP_001308936.1:p.Leu625Ter
NM_001322008.1:c.1874T>G	NP_001308937.1:p.Leu625Ter
NM_001322009.1:c.1787T>G	NP_001308938.1:p.Leu596Ter
NM_001322010.1:c.1631T>G	NP_001308939.1:p.Leu544Ter
NM_001322011.1:c.1259T>G	NP_001308940.1:p.Leu420Ter
NM_001322012.1:c.1259T>G	NP_001308941.1:p.Leu420Ter
NM_001322013.1:c.1619T>G	NP_001308942.1:p.Leu540Ter
NM_001322014.1:c.2192T>G	NP_001308943.1:p.Leu731Ter
NM_001322015.1:c.1883T>G	NP_001308944.1:p.Leu628Ter
NR_136154.1:n.2279T>G
XM_006715744.4:c.1259T>G	XP_006715807.1:p.Leu420Ter
XM_017012342.2:c.1259T>G	XP_016867831.1:p.Leu420Ter
XM_024446800.1:c.1631T>G	XP_024302568.1:p.Leu544Ter
NM_000535.7:c.2192T>G MANE Select	NP_000526.2:p.Leu731Ter
NM_001322003.2:c.1787T>G	NP_001308932.1:p.Leu596Ter
NM_001322004.2:c.1787T>G	NP_001308933.1:p.Leu596Ter
NM_001322005.2:c.1787T>G	NP_001308934.1:p.Leu596Ter
NM_001322006.2:c.2036T>G	NP_001308935.1:p.Leu679Ter
NM_001322008.2:c.1874T>G	NP_001308937.1:p.Leu625Ter
NM_001322009.2:c.1787T>G	NP_001308938.1:p.Leu596Ter
NM_001322010.2:c.1631T>G	NP_001308939.1:p.Leu544Ter
NM_001322011.2:c.1259T>G	NP_001308940.1:p.Leu420Ter
NM_001322012.2:c.1259T>G	NP_001308941.1:p.Leu420Ter
NM_001322013.2:c.1619T>G	NP_001308942.1:p.Leu540Ter
NM_001322014.2:c.2192T>G	NP_001308943.1:p.Leu731Ter
NM_001322015.2:c.1883T>G	NP_001308944.1:p.Leu628Ter
NM_001322007.2:c.1874T>G	NP_001308936.1:p.Leu625Ter