Canonical Allele Identifier: CA200583223

Gene: HMCN2

Linked Data

• dbSNP Id: rs991534412
• gnomAD v2: 9-133308854-C-T
• gnomAD v3: 9-130433467-C-T
• gnomAD v4: 9-130433467-C-T
• MyVariant Identifiers: chr9:g.133308854C>T (hg19) ; chr9:g.130433467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433467C>T , CM000671.2:g.130433467C>T	GRCh38
NC_000009.11:g.133308854C>T , CM000671.1:g.133308854C>T	GRCh37
NC_000009.10:g.132298675C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14957C>T	ENSP00000485357.2:p.Ala4986Val
ENST00000683500.2:c.15014C>T MANE Select	ENSP00000508292.2:p.Ala5005Val
ENST00000623487.1:n.3360C>T
ENST00000624552.3:c.14954C>T	ENSP00000485357.1:p.Ala4985Val
NM_001291815.1:c.15014C>T	NP_001278744.1:p.Ala5005Val
XM_011518465.1:c.14891C>T	XP_011516767.1:p.Ala4964Val
XM_011518466.1:c.14882C>T	XP_011516768.1:p.Ala4961Val
XM_011518467.1:c.14837C>T	XP_011516769.1:p.Ala4946Val
NM_001291815.2:c.15014C>T MANE Select	NP_001278744.1:p.Ala5005Val
XM_011518465.2:c.14891C>T	XP_011516767.1:p.Ala4964Val
XM_011518466.2:c.14882C>T	XP_011516768.1:p.Ala4961Val
XM_011518467.2:c.14837C>T	XP_011516769.1:p.Ala4946Val
XM_017014585.1:c.11795C>T	XP_016870074.1:p.Ala3932Val
XM_017014586.1:c.7592C>T	XP_016870075.1:p.Ala2531Val
XR_001746957.1:n.92+154G>A
XR_001746958.1:n.92+154G>A