Canonical Allele Identifier: CA375219178

Gene: HMCN2

Linked Data

• dbSNP Id: rs1286297630
• gnomAD v4: 9-130433359-G-A
• MyVariant Identifiers: chr9:g.133308746G>A (hg19) ; chr9:g.130433359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433359G>A , CM000671.2:g.130433359G>A	GRCh38
NC_000009.11:g.133308746G>A , CM000671.1:g.133308746G>A	GRCh37
NC_000009.10:g.132298567G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14849G>A	ENSP00000485357.2:p.Arg4950Gln
ENST00000683500.2:c.14906G>A MANE Select	ENSP00000508292.2:p.Arg4969Gln
ENST00000623487.1:n.3252G>A
ENST00000624552.3:c.14846G>A	ENSP00000485357.1:p.Arg4949Gln
NM_001291815.1:c.14906G>A	NP_001278744.1:p.Arg4969Gln
XM_011518465.1:c.14783G>A	XP_011516767.1:p.Arg4928Gln
XM_011518466.1:c.14774G>A	XP_011516768.1:p.Arg4925Gln
XM_011518467.1:c.14729G>A	XP_011516769.1:p.Arg4910Gln
NM_001291815.2:c.14906G>A MANE Select	NP_001278744.1:p.Arg4969Gln
XM_011518465.2:c.14783G>A	XP_011516767.1:p.Arg4928Gln
XM_011518466.2:c.14774G>A	XP_011516768.1:p.Arg4925Gln
XM_011518467.2:c.14729G>A	XP_011516769.1:p.Arg4910Gln
XM_017014585.1:c.11687G>A	XP_016870074.1:p.Arg3896Gln
XM_017014586.1:c.7484G>A	XP_016870075.1:p.Arg2495Gln
XR_001746957.1:n.92+262C>T
XR_001746958.1:n.92+262C>T