Canonical Allele Identifier: CA375219205

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14857T>A	ENSP00000485357.2:p.Ser4953Thr
ENST00000683500.2:c.14914T>A MANE Select	ENSP00000508292.2:p.Ser4972Thr
ENST00000623487.1:n.3260T>A
ENST00000624552.3:c.14854T>A	ENSP00000485357.1:p.Ser4952Thr
NM_001291815.1:c.14914T>A	NP_001278744.1:p.Ser4972Thr
XM_011518465.1:c.14791T>A	XP_011516767.1:p.Ser4931Thr
XM_011518466.1:c.14782T>A	XP_011516768.1:p.Ser4928Thr
XM_011518467.1:c.14737T>A	XP_011516769.1:p.Ser4913Thr
NM_001291815.2:c.14914T>A MANE Select	NP_001278744.1:p.Ser4972Thr
XM_011518465.2:c.14791T>A	XP_011516767.1:p.Ser4931Thr
XM_011518466.2:c.14782T>A	XP_011516768.1:p.Ser4928Thr
XM_011518467.2:c.14737T>A	XP_011516769.1:p.Ser4913Thr
XM_017014585.1:c.11695T>A	XP_016870074.1:p.Ser3899Thr
XM_017014586.1:c.7492T>A	XP_016870075.1:p.Ser2498Thr
XR_001746957.1:n.92+254A>T
XR_001746958.1:n.92+254A>T