Canonical Allele Identifier: CA375219457

Gene: HMCN2

Linked Data

• dbSNP Id: rs769432528
• gnomAD v4: 9-130433431-G-C
• MyVariant Identifiers: chr9:g.133308818G>C (hg19) ; chr9:g.130433431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433431G>C , CM000671.2:g.130433431G>C	GRCh38
NC_000009.11:g.133308818G>C , CM000671.1:g.133308818G>C	GRCh37
NC_000009.10:g.132298639G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14921G>C	ENSP00000485357.2:p.Gly4974Ala
ENST00000683500.2:c.14978G>C MANE Select	ENSP00000508292.2:p.Gly4993Ala
ENST00000623487.1:n.3324G>C
ENST00000624552.3:c.14918G>C	ENSP00000485357.1:p.Gly4973Ala
NM_001291815.1:c.14978G>C	NP_001278744.1:p.Gly4993Ala
XM_011518465.1:c.14855G>C	XP_011516767.1:p.Gly4952Ala
XM_011518466.1:c.14846G>C	XP_011516768.1:p.Gly4949Ala
XM_011518467.1:c.14801G>C	XP_011516769.1:p.Gly4934Ala
NM_001291815.2:c.14978G>C MANE Select	NP_001278744.1:p.Gly4993Ala
XM_011518465.2:c.14855G>C	XP_011516767.1:p.Gly4952Ala
XM_011518466.2:c.14846G>C	XP_011516768.1:p.Gly4949Ala
XM_011518467.2:c.14801G>C	XP_011516769.1:p.Gly4934Ala
XM_017014585.1:c.11759G>C	XP_016870074.1:p.Gly3920Ala
XM_017014586.1:c.7556G>C	XP_016870075.1:p.Gly2519Ala
XR_001746957.1:n.92+190C>G
XR_001746958.1:n.92+190C>G