Canonical Allele Identifier: CA375219633

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14966A>C	ENSP00000485357.2:p.Glu4989Ala
ENST00000683500.2:c.15023A>C MANE Select	ENSP00000508292.2:p.Glu5008Ala
ENST00000623487.1:n.3369A>C
ENST00000624552.3:c.14963A>C	ENSP00000485357.1:p.Glu4988Ala
NM_001291815.1:c.15023A>C	NP_001278744.1:p.Glu5008Ala
XM_011518465.1:c.14900A>C	XP_011516767.1:p.Glu4967Ala
XM_011518466.1:c.14891A>C	XP_011516768.1:p.Glu4964Ala
XM_011518467.1:c.14846A>C	XP_011516769.1:p.Glu4949Ala
NM_001291815.2:c.15023A>C MANE Select	NP_001278744.1:p.Glu5008Ala
XM_011518465.2:c.14900A>C	XP_011516767.1:p.Glu4967Ala
XM_011518466.2:c.14891A>C	XP_011516768.1:p.Glu4964Ala
XM_011518467.2:c.14846A>C	XP_011516769.1:p.Glu4949Ala
XM_017014585.1:c.11804A>C	XP_016870074.1:p.Glu3935Ala
XM_017014586.1:c.7601A>C	XP_016870075.1:p.Glu2534Ala
XR_001746957.1:n.92+145T>G
XR_001746958.1:n.92+145T>G