Canonical Allele Identifier: CA375219622

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308858C>A (hg19) ; chr9:g.130433471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433471C>A , CM000671.2:g.130433471C>A	GRCh38
NC_000009.11:g.133308858C>A , CM000671.1:g.133308858C>A	GRCh37
NC_000009.10:g.132298679C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14961C>A	ENSP00000485357.2:p.Phe4987Leu
ENST00000683500.2:c.15018C>A MANE Select	ENSP00000508292.2:p.Phe5006Leu
ENST00000623487.1:n.3364C>A
ENST00000624552.3:c.14958C>A	ENSP00000485357.1:p.Phe4986Leu
NM_001291815.1:c.15018C>A	NP_001278744.1:p.Phe5006Leu
XM_011518465.1:c.14895C>A	XP_011516767.1:p.Phe4965Leu
XM_011518466.1:c.14886C>A	XP_011516768.1:p.Phe4962Leu
XM_011518467.1:c.14841C>A	XP_011516769.1:p.Phe4947Leu
NM_001291815.2:c.15018C>A MANE Select	NP_001278744.1:p.Phe5006Leu
XM_011518465.2:c.14895C>A	XP_011516767.1:p.Phe4965Leu
XM_011518466.2:c.14886C>A	XP_011516768.1:p.Phe4962Leu
XM_011518467.2:c.14841C>A	XP_011516769.1:p.Phe4947Leu
XM_017014585.1:c.11799C>A	XP_016870074.1:p.Phe3933Leu
XM_017014586.1:c.7596C>A	XP_016870075.1:p.Phe2532Leu
XR_001746957.1:n.92+150G>T
XR_001746958.1:n.92+150G>T