Canonical Allele Identifier: CA375219630

Gene: HMCN2

Linked Data

• dbSNP Id: rs1387318589
• gnomAD v4: 9-130433475-G-A
• MyVariant Identifiers: chr9:g.133308862G>A (hg19) ; chr9:g.130433475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433475G>A , CM000671.2:g.130433475G>A	GRCh38
NC_000009.11:g.133308862G>A , CM000671.1:g.133308862G>A	GRCh37
NC_000009.10:g.132298683G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14965G>A	ENSP00000485357.2:p.Glu4989Lys
ENST00000683500.2:c.15022G>A MANE Select	ENSP00000508292.2:p.Glu5008Lys
ENST00000623487.1:n.3368G>A
ENST00000624552.3:c.14962G>A	ENSP00000485357.1:p.Glu4988Lys
NM_001291815.1:c.15022G>A	NP_001278744.1:p.Glu5008Lys
XM_011518465.1:c.14899G>A	XP_011516767.1:p.Glu4967Lys
XM_011518466.1:c.14890G>A	XP_011516768.1:p.Glu4964Lys
XM_011518467.1:c.14845G>A	XP_011516769.1:p.Glu4949Lys
NM_001291815.2:c.15022G>A MANE Select	NP_001278744.1:p.Glu5008Lys
XM_011518465.2:c.14899G>A	XP_011516767.1:p.Glu4967Lys
XM_011518466.2:c.14890G>A	XP_011516768.1:p.Glu4964Lys
XM_011518467.2:c.14845G>A	XP_011516769.1:p.Glu4949Lys
XM_017014585.1:c.11803G>A	XP_016870074.1:p.Glu3935Lys
XM_017014586.1:c.7600G>A	XP_016870075.1:p.Glu2534Lys
XR_001746957.1:n.92+146C>T
XR_001746958.1:n.92+146C>T