Canonical Allele Identifier: CA10698919
Gene: TMCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1172130
gnomAD v2: 1-205244953-G-A
gnomAD v3: 1-205275825-G-A
gnomAD v4: 1-205275825-G-A
MyVariant Identifiers: chr1:g.205244953G>A (hg19) chr1:g.205275825G>A (hg38)
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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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