Canonical Allele Identifier: CA1890254

Gene: THSD7B

Linked Data

• ClinVar Variation Id: 3177248
• ClinVar RCV Id: RCV004467090
• dbSNP Id: rs775249555
• ExAC: 2:137814025 G / A
• gnomAD v2: 2-137814025-G-A
• gnomAD v3: 2-137056455-G-A
• gnomAD v4: 2-137056455-G-A
• COSMIC: COSM3566855 ; COSM3566856
• MyVariant Identifiers: chr2:g.137814025G>A (hg19) ; chr2:g.137056455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137056455G>A , CM000664.2:g.137056455G>A	GRCh38
NC_000002.11:g.137814025G>A , CM000664.1:g.137814025G>A	GRCh37
NC_000002.10:g.137530495G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409968.6:c.175G>A MANE Select	ENSP00000387145.1:p.Gly59Arg
ENST00000272643.7:c.175G>A	ENSP00000272643.4:p.Gly59Arg
ENST00000409968.5:c.175G>A	ENSP00000387145.1:p.Gly59Arg
ENST00000413152.3:c.82G>A	ENSP00000413841.3:p.Gly28Arg
ENST00000472720.5:c.*141G>A	ENSP00000473349.1:n.*141G>A
NM_001080427.1:c.82G>A	NP_001073896.1:p.Gly28Arg
NM_001316349.1:c.175G>A	NP_001303278.1:p.Gly59Arg
NM_001316349.2:c.175G>A MANE Select	NP_001303278.1:p.Gly59Arg