Canonical Allele Identifier: CA375219618

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308857T>G (hg19) ; chr9:g.130433470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433470T>G , CM000671.2:g.130433470T>G	GRCh38
NC_000009.11:g.133308857T>G , CM000671.1:g.133308857T>G	GRCh37
NC_000009.10:g.132298678T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14960T>G	ENSP00000485357.2:p.Phe4987Cys
ENST00000683500.2:c.15017T>G MANE Select	ENSP00000508292.2:p.Phe5006Cys
ENST00000623487.1:n.3363T>G
ENST00000624552.3:c.14957T>G	ENSP00000485357.1:p.Phe4986Cys
NM_001291815.1:c.15017T>G	NP_001278744.1:p.Phe5006Cys
XM_011518465.1:c.14894T>G	XP_011516767.1:p.Phe4965Cys
XM_011518466.1:c.14885T>G	XP_011516768.1:p.Phe4962Cys
XM_011518467.1:c.14840T>G	XP_011516769.1:p.Phe4947Cys
NM_001291815.2:c.15017T>G MANE Select	NP_001278744.1:p.Phe5006Cys
XM_011518465.2:c.14894T>G	XP_011516767.1:p.Phe4965Cys
XM_011518466.2:c.14885T>G	XP_011516768.1:p.Phe4962Cys
XM_011518467.2:c.14840T>G	XP_011516769.1:p.Phe4947Cys
XM_017014585.1:c.11798T>G	XP_016870074.1:p.Phe3933Cys
XM_017014586.1:c.7595T>G	XP_016870075.1:p.Phe2532Cys
XR_001746957.1:n.92+151A>C
XR_001746958.1:n.92+151A>C