Canonical Allele Identifier: CA1511955

Gene: TPO

Linked Data

• ClinVar Variation Id: 331363
• ClinVar RCV Id: RCV003718201 ; RCV000364135
• dbSNP Id: rs13431173
• ExAC: 2:1499870 A / G
• gnomAD v2: 2-1499870-A-G
• gnomAD v3: 2-1496098-A-G
• gnomAD v4: 2-1496098-A-G
• MyVariant Identifiers: chr2:g.1499870A>G (hg19) ; chr2:g.1496098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1496098A>G , CM000664.2:g.1496098A>G	GRCh38
NC_000002.11:g.1499870A>G , CM000664.1:g.1499870A>G	GRCh37
NC_000002.10:g.1478877A>G	NCBI36
NG_011581.1:g.87636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2116A>G MANE Select	ENSP00000329869.4:p.Met706Val
ENST00000329066.8:c.2116A>G	ENSP00000329869.4:p.Met706Val
ENST00000345913.8:c.2116A>G	ENSP00000318820.7:p.Met706Val
ENST00000346956.7:c.2116A>G	ENSP00000263886.6:p.Met706Val
ENST00000382198.5:c.1597A>G	ENSP00000371633.1:p.Met533Val
ENST00000382201.7:c.1945A>G	ENSP00000371636.3:p.Met649Val
ENST00000422464.5:c.1903A>G	ENSP00000405788.1:p.Met635Val
ENST00000446278.5:c.540A>G
ENST00000462973.5:n.424+2059A>G
ENST00000469607.3:c.538A>G	ENSP00000419461.1:p.Met180Val
ENST00000497517.6:n.677+2059A>G
NM_000547.5:c.2116A>G	NP_000538.3:p.Met706Val
NM_001206744.1:c.2116A>G	NP_001193673.1:p.Met706Val
NM_001206745.1:c.1945A>G	NP_001193674.1:p.Met649Val
NM_175719.3:c.1945A>G	NP_783650.1:p.Met649Val
NM_175721.3:c.2116A>G	NP_783652.1:p.Met706Val
NM_175722.3:c.1597A>G	NP_783653.1:p.Met533Val
XM_011510379.1:c.2116A>G	XP_011508681.1:p.Met706Val
XM_011510380.1:c.2116A>G	XP_011508682.1:p.Met706Val
XM_011510381.1:c.1945A>G	XP_011508683.1:p.Met649Val
XR_922681.1:n.2117A>G
XM_011510380.3:c.2152A>G	XP_011508682.2:p.Met718Val
XM_024453085.1:c.2152A>G	XP_024308853.1:p.Met718Val
XM_024453086.1:c.2152A>G	XP_024308854.1:p.Met718Val
XM_024453087.1:c.2116A>G	XP_024308855.1:p.Met706Val
XM_024453088.1:c.2116A>G	XP_024308856.1:p.Met706Val
XM_024453089.1:c.2116A>G	XP_024308857.1:p.Met706Val
XM_024453090.1:c.2152A>G	XP_024308858.1:p.Met718Val
XM_024453091.1:c.1981A>G	XP_024308859.1:p.Met661Val
XM_024453092.1:c.1981A>G	XP_024308860.1:p.Met661Val
XM_024453093.1:c.1633A>G	XP_024308861.1:p.Met545Val
NM_001206744.2:c.2116A>G MANE Select	NP_001193673.1:p.Met706Val
NM_000547.6:c.2116A>G	NP_000538.3:p.Met706Val
NM_001206745.2:c.1945A>G	NP_001193674.1:p.Met649Val
NM_175719.4:c.1945A>G	NP_783650.1:p.Met649Val