Canonical Allele Identifier: CA877427
Gene: TACSTD2 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'