Canonical Allele Identifier: CA375219635

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308863A>T (hg19) ; chr9:g.130433476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433476A>T , CM000671.2:g.130433476A>T	GRCh38
NC_000009.11:g.133308863A>T , CM000671.1:g.133308863A>T	GRCh37
NC_000009.10:g.132298684A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14966A>T	ENSP00000485357.2:p.Glu4989Val
ENST00000683500.2:c.15023A>T MANE Select	ENSP00000508292.2:p.Glu5008Val
ENST00000623487.1:n.3369A>T
ENST00000624552.3:c.14963A>T	ENSP00000485357.1:p.Glu4988Val
NM_001291815.1:c.15023A>T	NP_001278744.1:p.Glu5008Val
XM_011518465.1:c.14900A>T	XP_011516767.1:p.Glu4967Val
XM_011518466.1:c.14891A>T	XP_011516768.1:p.Glu4964Val
XM_011518467.1:c.14846A>T	XP_011516769.1:p.Glu4949Val
NM_001291815.2:c.15023A>T MANE Select	NP_001278744.1:p.Glu5008Val
XM_011518465.2:c.14900A>T	XP_011516767.1:p.Glu4967Val
XM_011518466.2:c.14891A>T	XP_011516768.1:p.Glu4964Val
XM_011518467.2:c.14846A>T	XP_011516769.1:p.Glu4949Val
XM_017014585.1:c.11804A>T	XP_016870074.1:p.Glu3935Val
XM_017014586.1:c.7601A>T	XP_016870075.1:p.Glu2534Val
XR_001746957.1:n.92+145T>A
XR_001746958.1:n.92+145T>A