Canonical Allele Identifier: CA346734802

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1429804
• ClinVar RCV Id: RCV001939118 ; RCV002425270
• dbSNP Id: rs1223620783
• MyVariant Identifiers: chr2:g.48010454T>G (hg19) ; chr2:g.47783315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783315T>G , CM000664.2:g.47783315T>G	GRCh38
NC_000002.11:g.48010454T>G , CM000664.1:g.48010454T>G	GRCh37
NC_000002.10:g.47863958T>G	NCBI36
NG_007111.1:g.5169T>G , LRG_219:g.5169T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.82T>G	ENSP00000514752.2:p.Ser28Ala
ENST00000699999.1:n.166T>G
ENST00000700000.1:c.82T>G	ENSP00000514749.1:p.Ser28Ala
ENST00000700001.1:n.154T>G
ENST00000700002.1:c.82T>G	ENSP00000514750.1:p.Ser28Ala
ENST00000700003.1:c.82T>G	ENSP00000514751.1:p.Ser28Ala
ENST00000234420.11:c.82T>G MANE Select	ENSP00000234420.5:p.Ser28Ala
ENST00000540021.6:c.82T>G	ENSP00000446475.1:p.Ser28Ala
ENST00000652107.1:c.-37-7612T>G	ENSP00000498629.1:n.-37-7612T>G
ENST00000673637.1:c.-38+84T>G	ENSP00000501310.1:n.-38+84T>G
ENST00000673922.1:n.171T>G
ENST00000234420.9:c.82T>G	ENSP00000234420.4:p.Ser28Ala
ENST00000445503.5:c.82T>G	ENSP00000405294.1:p.Ser28Ala
ENST00000456246.1:c.82T>G	ENSP00000410570.1:p.Ser28Ala
ENST00000493177.1:n.146T>G
ENST00000540021.5:c.82T>G	ENSP00000446475.1:p.Ser28Ala
ENST00000606499.1:c.-37-7612T>G	ENSP00000475605.1:n.-37-7612T>G
ENST00000614496.4:c.-655T>G	ENSP00000477844.1:n.-655T>G
ENST00000616033.4:c.82T>G	ENSP00000480261.1:p.Ser28Ala
ENST00000622629.4:c.-3015T>G	ENSP00000482078.1:n.-3015T>G
NM_000179.2:c.82T>G , LRG_219t1:c.82T>G	NP_000170.1:p.Ser28Ala
NM_001281492.1:c.82T>G	NP_001268421.1:p.Ser28Ala
NM_001281493.1:c.-655T>G	NP_001268422.1:n.-655T>G
XM_011532800.1:c.-38+84T>G	XP_011531102.1:n.-38+84T>G
XM_024452819.1:c.82T>G	XP_024308587.1:p.Ser28Ala
XM_024452822.1:c.-655T>G	XP_024308590.1:n.-655T>G
NM_000179.3:c.82T>G MANE Select	NP_000170.1:p.Ser28Ala
NM_001281492.2:c.82T>G	NP_001268421.1:p.Ser28Ala
NM_001281493.2:c.-655T>G	NP_001268422.1:n.-655T>G