Canonical Allele Identifier: CA345697943

Gene: TPO

Linked Data

• dbSNP Id: rs749941271
• gnomAD v2: 2-1499841-G-A
• gnomAD v4: 2-1496069-G-A
• MyVariant Identifiers: chr2:g.1499841G>A (hg19) ; chr2:g.1496069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1496069G>A , CM000664.2:g.1496069G>A	GRCh38
NC_000002.11:g.1499841G>A , CM000664.1:g.1499841G>A	GRCh37
NC_000002.10:g.1478848G>A	NCBI36
NG_011581.1:g.87607G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000329066.9:c.2087G>A MANE Select	ENSP00000329869.4:p.Cys696Tyr
ENST00000329066.8:c.2087G>A	ENSP00000329869.4:p.Cys696Tyr
ENST00000345913.8:c.2087G>A	ENSP00000318820.7:p.Cys696Tyr
ENST00000346956.7:c.2087G>A	ENSP00000263886.6:p.Cys696Tyr
ENST00000382198.5:c.1568G>A	ENSP00000371633.1:p.Cys523Tyr
ENST00000382201.7:c.1916G>A	ENSP00000371636.3:p.Cys639Tyr
ENST00000422464.5:c.1874G>A	ENSP00000405788.1:p.Cys625Tyr
ENST00000446278.5:c.511G>A
ENST00000462973.5:n.424+2030G>A
ENST00000469607.3:c.509G>A	ENSP00000419461.1:p.Cys170Tyr
ENST00000497517.6:n.677+2030G>A
NM_000547.5:c.2087G>A	NP_000538.3:p.Cys696Tyr
NM_001206744.1:c.2087G>A	NP_001193673.1:p.Cys696Tyr
NM_001206745.1:c.1916G>A	NP_001193674.1:p.Cys639Tyr
NM_175719.3:c.1916G>A	NP_783650.1:p.Cys639Tyr
NM_175721.3:c.2087G>A	NP_783652.1:p.Cys696Tyr
NM_175722.3:c.1568G>A	NP_783653.1:p.Cys523Tyr
XM_011510379.1:c.2087G>A	XP_011508681.1:p.Cys696Tyr
XM_011510380.1:c.2087G>A	XP_011508682.1:p.Cys696Tyr
XM_011510381.1:c.1916G>A	XP_011508683.1:p.Cys639Tyr
XR_922681.1:n.2088G>A
XM_011510380.3:c.2123G>A	XP_011508682.2:p.Cys708Tyr
XM_024453085.1:c.2123G>A	XP_024308853.1:p.Cys708Tyr
XM_024453086.1:c.2123G>A	XP_024308854.1:p.Cys708Tyr
XM_024453087.1:c.2087G>A	XP_024308855.1:p.Cys696Tyr
XM_024453088.1:c.2087G>A	XP_024308856.1:p.Cys696Tyr
XM_024453089.1:c.2087G>A	XP_024308857.1:p.Cys696Tyr
XM_024453090.1:c.2123G>A	XP_024308858.1:p.Cys708Tyr
XM_024453091.1:c.1952G>A	XP_024308859.1:p.Cys651Tyr
XM_024453092.1:c.1952G>A	XP_024308860.1:p.Cys651Tyr
XM_024453093.1:c.1604G>A	XP_024308861.1:p.Cys535Tyr
NM_001206744.2:c.2087G>A MANE Select	NP_001193673.1:p.Cys696Tyr
NM_000547.6:c.2087G>A	NP_000538.3:p.Cys696Tyr
NM_001206745.2:c.1916G>A	NP_001193674.1:p.Cys639Tyr
NM_175719.4:c.1916G>A	NP_783650.1:p.Cys639Tyr