Canonical Allele Identifier: CA375219562

Gene: HMCN2

Linked Data

• dbSNP Id: rs1214200474
• gnomAD v4: 9-130433455-C-A
• MyVariant Identifiers: chr9:g.133308842C>A (hg19) ; chr9:g.130433455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433455C>A , CM000671.2:g.130433455C>A	GRCh38
NC_000009.11:g.133308842C>A , CM000671.1:g.133308842C>A	GRCh37
NC_000009.10:g.132298663C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14945C>A	ENSP00000485357.2:p.Ala4982Asp
ENST00000683500.2:c.15002C>A MANE Select	ENSP00000508292.2:p.Ala5001Asp
ENST00000623487.1:n.3348C>A
ENST00000624552.3:c.14942C>A	ENSP00000485357.1:p.Ala4981Asp
NM_001291815.1:c.15002C>A	NP_001278744.1:p.Ala5001Asp
XM_011518465.1:c.14879C>A	XP_011516767.1:p.Ala4960Asp
XM_011518466.1:c.14870C>A	XP_011516768.1:p.Ala4957Asp
XM_011518467.1:c.14825C>A	XP_011516769.1:p.Ala4942Asp
NM_001291815.2:c.15002C>A MANE Select	NP_001278744.1:p.Ala5001Asp
XM_011518465.2:c.14879C>A	XP_011516767.1:p.Ala4960Asp
XM_011518466.2:c.14870C>A	XP_011516768.1:p.Ala4957Asp
XM_011518467.2:c.14825C>A	XP_011516769.1:p.Ala4942Asp
XM_017014585.1:c.11783C>A	XP_016870074.1:p.Ala3928Asp
XM_017014586.1:c.7580C>A	XP_016870075.1:p.Ala2527Asp
XR_001746957.1:n.92+166G>T
XR_001746958.1:n.92+166G>T