Canonical Allele Identifier: CA340527348
Gene: TACSTD2 HGNC NCBI

Linked Data

dbSNP Id: rs1180750101
gnomAD v2: 1-59042522-G-A
gnomAD v3: 1-58576850-G-A
gnomAD v4: 1-58576850-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.58576850G>A , CM000663.2:g.58576850G>A GRCh38
NC_000001.10:g.59042522G>A , CM000663.1:g.59042522G>A GRCh37
NC_000001.9:g.58815110G>A NCBI36
NG_016237.1:g.5645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371225.4:c.307C>T MANE Select ENSP00000360269.2:p.Leu103Phe
ENST00000371225.3:c.307C>T ENSP00000360269.2:p.Leu103Phe
NM_002353.2:c.307C>T NP_002344.2:p.Leu103Phe
NM_002353.3:c.307C>T MANE Select NP_002344.2:p.Leu103Phe