Canonical Allele Identifier: CA877427

Gene: TACSTD2

Linked Data

• ClinVar Variation Id: 297770
• ClinVar RCV Id: RCV000279707 ; RCV002522134
• dbSNP Id: rs1062964
• ExAC: 1:59042388 C / G
• gnomAD v2: 1-59042388-C-G
• gnomAD v3: 1-58576716-C-G
• gnomAD v4: 1-58576716-C-G
• MyVariant Identifiers: chr1:g.59042388C>G (hg19) ; chr1:g.58576716C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58576716C>G , CM000663.2:g.58576716C>G	GRCh38
NC_000001.10:g.59042388C>G , CM000663.1:g.59042388C>G	GRCh37
NC_000001.9:g.58814976C>G	NCBI36
NG_016237.1:g.5779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371225.4:c.441G>C MANE Select	ENSP00000360269.2:p.Glu147Asp
ENST00000371225.3:c.441G>C	ENSP00000360269.2:p.Glu147Asp
NM_002353.2:c.441G>C	NP_002344.2:p.Glu147Asp
NM_002353.3:c.441G>C MANE Select	NP_002344.2:p.Glu147Asp