Allele Registry

Canonical Allele Identifier: CA10698919

Gene: TMCC2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.205275825G>A

GRCh37 chr1:g.205244953G>A

Linked Data - Sequence & Population

gnomAD v2:

1:205244953 G / A

gnomAD v3:

1:205275825 G / A

gnomAD v4:

chr1-205275825-G-A

Joint Max Group AF 0.3770356 (NFE)

Genomes Max Group AF 0.3770356 (NFE)

Linked Data - NCBI & NCI

dbSNP:

1172130

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205275825G>A , CM000663.2:g.205275825G>A	GRCh38
NC_000001.10:g.205244953G>A , CM000663.1:g.205244953G>A	GRCh37
NC_000001.9:g.203511576G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648708.1:n.114-2203G>A

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