Canonical Allele Identifier: CA340525856

Gene: TACSTD2

Linked Data

• dbSNP Id: rs756376044
• gnomAD v2: 1-59042387-G-T
• gnomAD v4: 1-58576715-G-T
• MyVariant Identifiers: chr1:g.59042387G>T (hg19) ; chr1:g.58576715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58576715G>T , CM000663.2:g.58576715G>T	GRCh38
NC_000001.10:g.59042387G>T , CM000663.1:g.59042387G>T	GRCh37
NC_000001.9:g.58814975G>T	NCBI36
NG_016237.1:g.5780C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371225.4:c.442C>A MANE Select	ENSP00000360269.2:p.Leu148Met
ENST00000371225.3:c.442C>A	ENSP00000360269.2:p.Leu148Met
NM_002353.2:c.442C>A	NP_002344.2:p.Leu148Met
NM_002353.3:c.442C>A MANE Select	NP_002344.2:p.Leu148Met