Canonical Allele Identifier: CA375219604

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308854C>A (hg19) ; chr9:g.130433467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433467C>A , CM000671.2:g.130433467C>A	GRCh38
NC_000009.11:g.133308854C>A , CM000671.1:g.133308854C>A	GRCh37
NC_000009.10:g.132298675C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14957C>A	ENSP00000485357.2:p.Ala4986Asp
ENST00000683500.2:c.15014C>A MANE Select	ENSP00000508292.2:p.Ala5005Asp
ENST00000623487.1:n.3360C>A
ENST00000624552.3:c.14954C>A	ENSP00000485357.1:p.Ala4985Asp
NM_001291815.1:c.15014C>A	NP_001278744.1:p.Ala5005Asp
XM_011518465.1:c.14891C>A	XP_011516767.1:p.Ala4964Asp
XM_011518466.1:c.14882C>A	XP_011516768.1:p.Ala4961Asp
XM_011518467.1:c.14837C>A	XP_011516769.1:p.Ala4946Asp
NM_001291815.2:c.15014C>A MANE Select	NP_001278744.1:p.Ala5005Asp
XM_011518465.2:c.14891C>A	XP_011516767.1:p.Ala4964Asp
XM_011518466.2:c.14882C>A	XP_011516768.1:p.Ala4961Asp
XM_011518467.2:c.14837C>A	XP_011516769.1:p.Ala4946Asp
XM_017014585.1:c.11795C>A	XP_016870074.1:p.Ala3932Asp
XM_017014586.1:c.7592C>A	XP_016870075.1:p.Ala2531Asp
XR_001746957.1:n.92+154G>T
XR_001746958.1:n.92+154G>T