Canonical Allele Identifier: CA375219450

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433430-G-A
• MyVariant Identifiers: chr9:g.133308817G>A (hg19) ; chr9:g.130433430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433430G>A , CM000671.2:g.130433430G>A	GRCh38
NC_000009.11:g.133308817G>A , CM000671.1:g.133308817G>A	GRCh37
NC_000009.10:g.132298638G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14920G>A	ENSP00000485357.2:p.Gly4974Ser
ENST00000683500.2:c.14977G>A MANE Select	ENSP00000508292.2:p.Gly4993Ser
ENST00000623487.1:n.3323G>A
ENST00000624552.3:c.14917G>A	ENSP00000485357.1:p.Gly4973Ser
NM_001291815.1:c.14977G>A	NP_001278744.1:p.Gly4993Ser
XM_011518465.1:c.14854G>A	XP_011516767.1:p.Gly4952Ser
XM_011518466.1:c.14845G>A	XP_011516768.1:p.Gly4949Ser
XM_011518467.1:c.14800G>A	XP_011516769.1:p.Gly4934Ser
NM_001291815.2:c.14977G>A MANE Select	NP_001278744.1:p.Gly4993Ser
XM_011518465.2:c.14854G>A	XP_011516767.1:p.Gly4952Ser
XM_011518466.2:c.14845G>A	XP_011516768.1:p.Gly4949Ser
XM_011518467.2:c.14800G>A	XP_011516769.1:p.Gly4934Ser
XM_017014585.1:c.11758G>A	XP_016870074.1:p.Gly3920Ser
XM_017014586.1:c.7555G>A	XP_016870075.1:p.Gly2519Ser
XR_001746957.1:n.92+191C>T
XR_001746958.1:n.92+191C>T