Canonical Allele Identifier: CA375219617

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14960T>C	ENSP00000485357.2:p.Phe4987Ser
ENST00000683500.2:c.15017T>C MANE Select	ENSP00000508292.2:p.Phe5006Ser
ENST00000623487.1:n.3363T>C
ENST00000624552.3:c.14957T>C	ENSP00000485357.1:p.Phe4986Ser
NM_001291815.1:c.15017T>C	NP_001278744.1:p.Phe5006Ser
XM_011518465.1:c.14894T>C	XP_011516767.1:p.Phe4965Ser
XM_011518466.1:c.14885T>C	XP_011516768.1:p.Phe4962Ser
XM_011518467.1:c.14840T>C	XP_011516769.1:p.Phe4947Ser
NM_001291815.2:c.15017T>C MANE Select	NP_001278744.1:p.Phe5006Ser
XM_011518465.2:c.14894T>C	XP_011516767.1:p.Phe4965Ser
XM_011518466.2:c.14885T>C	XP_011516768.1:p.Phe4962Ser
XM_011518467.2:c.14840T>C	XP_011516769.1:p.Phe4947Ser
XM_017014585.1:c.11798T>C	XP_016870074.1:p.Phe3933Ser
XM_017014586.1:c.7595T>C	XP_016870075.1:p.Phe2532Ser
XR_001746957.1:n.92+151A>G
XR_001746958.1:n.92+151A>G