Canonical Allele Identifier: CA532350506

Gene: MSH6

Linked Data

• dbSNP Id: rs1213432675
• gnomAD v2: 2-48010122-G-C
• gnomAD v3: 2-47782983-G-C
• gnomAD v4: 2-47782983-G-C
• MyVariant Identifiers: chr2:g.48010122G>C (hg19) ; chr2:g.47782983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47782983G>C , CM000664.2:g.47782983G>C	GRCh38
NC_000002.11:g.48010122G>C , CM000664.1:g.48010122G>C	GRCh37
NC_000002.10:g.47863626G>C	NCBI36
NG_007111.1:g.4837G>C , LRG_219:g.4837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7944G>C	ENSP00000498629.1:n.-37-7944G>C
ENST00000606499.1:c.-37-7944G>C	ENSP00000475605.1:n.-37-7944G>C