Allele Registry

Canonical Allele Identifier: CA15751530

Gene: ATP5MC2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.53647408T>C

GRCh37 chr12:g.54041192T>C

Linked Data - Sequence & Population

gnomAD v2:

12:54041192 T / C

gnomAD v3:

12:53647408 T / C

gnomAD v4:

chr12-53647408-T-C

Joint Max Group AF 0.64847181 (AFR)

Genomes Max Group AF 0.64847181 (AFR)

Linked Data - NCBI & NCI

dbSNP:

11170631

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53647408T>C , CM000674.2:g.53647408T>C	GRCh38
NC_000012.11:g.54041192T>C , CM000674.1:g.54041192T>C	GRCh37
NC_000012.10:g.52327459T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550241.1:n.66-14342A>G

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