Canonical Allele Identifier: CA532350537

Gene: MSH6

Linked Data

• dbSNP Id: rs1454122615
• gnomAD v2: 2-48010295-C-T
• gnomAD v3: 2-47783156-C-T
• gnomAD v4: 2-47783156-C-T
• MyVariant Identifiers: chr2:g.48010295C>T (hg19) ; chr2:g.47783156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783156C>T , CM000664.2:g.47783156C>T	GRCh38
NC_000002.11:g.48010295C>T , CM000664.1:g.48010295C>T	GRCh37
NC_000002.10:g.47863799C>T	NCBI36
NG_007111.1:g.5010C>T , LRG_219:g.5010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.-78C>T	ENSP00000514752.2:n.-78C>T
ENST00000699999.1:n.7C>T
ENST00000700000.1:c.-78C>T	ENSP00000514749.1:n.-78C>T
ENST00000234420.11:c.-78C>T MANE Select	ENSP00000234420.5:n.-78C>T
ENST00000652107.1:c.-37-7771C>T	ENSP00000498629.1:n.-37-7771C>T
ENST00000673637.1:c.-113C>T	ENSP00000501310.1:n.-113C>T
ENST00000673922.1:n.12C>T
ENST00000234420.9:c.-78C>T	ENSP00000234420.4:n.-78C>T
ENST00000445503.5:c.-78C>T	ENSP00000405294.1:n.-78C>T
ENST00000456246.1:c.-78C>T	ENSP00000410570.1:n.-78C>T
ENST00000540021.5:c.-78C>T	ENSP00000446475.1:n.-78C>T
ENST00000606499.1:c.-37-7771C>T	ENSP00000475605.1:n.-37-7771C>T
ENST00000614496.4:c.-814C>T	ENSP00000477844.1:n.-814C>T
ENST00000616033.4:c.-78C>T	ENSP00000480261.1:n.-78C>T
ENST00000622629.4:c.-3174C>T	ENSP00000482078.1:n.-3174C>T
NM_000179.2:c.-78C>T , LRG_219t1:c.-78C>T	NP_000170.1:n.-78C>T
NM_001281492.1:c.-78C>T	NP_001268421.1:n.-78C>T
NM_001281493.1:c.-814C>T	NP_001268422.1:n.-814C>T
XM_024452819.1:c.-78C>T	XP_024308587.1:n.-78C>T
NM_000179.3:c.-78C>T MANE Select	NP_000170.1:n.-78C>T
NM_001281492.2:c.-78C>T	NP_001268421.1:n.-78C>T
NM_001281493.2:c.-814C>T	NP_001268422.1:n.-814C>T