Canonical Allele Identifier: CA418183040
Gene: TACSTD2 HGNC NCBI

Linked Data

dbSNP Id: rs749033164
gnomAD v3: 1-58576869-C-A
gnomAD v4: 1-58576869-C-A
MyVariant Identifiers: chr1:g.59042541C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.58576869C>A , CM000663.2:g.58576869C>A GRCh38
NC_000001.10:g.59042541C>A , CM000663.1:g.59042541C>A GRCh37
NC_000001.9:g.58815129C>A NCBI36
NG_016237.1:g.5626G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371225.4:c.288G>T MANE Select ENSP00000360269.2:p.Ala96=
ENST00000371225.3:c.288G>T ENSP00000360269.2:p.Ala96=
NM_002353.2:c.288G>T NP_002344.2:p.Ala96=
NM_002353.3:c.288G>T MANE Select NP_002344.2:p.Ala96=