Canonical Allele Identifier: CA375219561

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308842C>G (hg19) ; chr9:g.130433455C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14945C>G	ENSP00000485357.2:p.Ala4982Gly
ENST00000683500.2:c.15002C>G MANE Select	ENSP00000508292.2:p.Ala5001Gly
ENST00000623487.1:n.3348C>G
ENST00000624552.3:c.14942C>G	ENSP00000485357.1:p.Ala4981Gly
NM_001291815.1:c.15002C>G	NP_001278744.1:p.Ala5001Gly
XM_011518465.1:c.14879C>G	XP_011516767.1:p.Ala4960Gly
XM_011518466.1:c.14870C>G	XP_011516768.1:p.Ala4957Gly
XM_011518467.1:c.14825C>G	XP_011516769.1:p.Ala4942Gly
NM_001291815.2:c.15002C>G MANE Select	NP_001278744.1:p.Ala5001Gly
XM_011518465.2:c.14879C>G	XP_011516767.1:p.Ala4960Gly
XM_011518466.2:c.14870C>G	XP_011516768.1:p.Ala4957Gly
XM_011518467.2:c.14825C>G	XP_011516769.1:p.Ala4942Gly
XM_017014585.1:c.11783C>G	XP_016870074.1:p.Ala3928Gly
XM_017014586.1:c.7580C>G	XP_016870075.1:p.Ala2527Gly
XR_001746957.1:n.92+166G>C
XR_001746958.1:n.92+166G>C