Canonical Allele Identifier: CA375219207

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308754T>G (hg19) ; chr9:g.130433367T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433367T>G , CM000671.2:g.130433367T>G	GRCh38
NC_000009.11:g.133308754T>G , CM000671.1:g.133308754T>G	GRCh37
NC_000009.10:g.132298575T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14857T>G	ENSP00000485357.2:p.Ser4953Ala
ENST00000683500.2:c.14914T>G MANE Select	ENSP00000508292.2:p.Ser4972Ala
ENST00000623487.1:n.3260T>G
ENST00000624552.3:c.14854T>G	ENSP00000485357.1:p.Ser4952Ala
NM_001291815.1:c.14914T>G	NP_001278744.1:p.Ser4972Ala
XM_011518465.1:c.14791T>G	XP_011516767.1:p.Ser4931Ala
XM_011518466.1:c.14782T>G	XP_011516768.1:p.Ser4928Ala
XM_011518467.1:c.14737T>G	XP_011516769.1:p.Ser4913Ala
NM_001291815.2:c.14914T>G MANE Select	NP_001278744.1:p.Ser4972Ala
XM_011518465.2:c.14791T>G	XP_011516767.1:p.Ser4931Ala
XM_011518466.2:c.14782T>G	XP_011516768.1:p.Ser4928Ala
XM_011518467.2:c.14737T>G	XP_011516769.1:p.Ser4913Ala
XM_017014585.1:c.11695T>G	XP_016870074.1:p.Ser3899Ala
XM_017014586.1:c.7492T>G	XP_016870075.1:p.Ser2498Ala
XR_001746957.1:n.92+254A>C
XR_001746958.1:n.92+254A>C