Canonical Allele Identifier: CA467387261

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308843C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433456C>A , CM000671.2:g.130433456C>A	GRCh38
NC_000009.11:g.133308843C>A , CM000671.1:g.133308843C>A	GRCh37
NC_000009.10:g.132298664C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14946C>A	ENSP00000485357.2:p.Ala4982=
ENST00000683500.2:c.15003C>A MANE Select	ENSP00000508292.2:p.Ala5001=
ENST00000623487.1:n.3349C>A
ENST00000624552.3:c.14943C>A	ENSP00000485357.1:p.Ala4981=
NM_001291815.1:c.15003C>A	NP_001278744.1:p.Ala5001=
XM_011518465.1:c.14880C>A	XP_011516767.1:p.Ala4960=
XM_011518466.1:c.14871C>A	XP_011516768.1:p.Ala4957=
XM_011518467.1:c.14826C>A	XP_011516769.1:p.Ala4942=
NM_001291815.2:c.15003C>A MANE Select	NP_001278744.1:p.Ala5001=
XM_011518465.2:c.14880C>A	XP_011516767.1:p.Ala4960=
XM_011518466.2:c.14871C>A	XP_011516768.1:p.Ala4957=
XM_011518467.2:c.14826C>A	XP_011516769.1:p.Ala4942=
XM_017014585.1:c.11784C>A	XP_016870074.1:p.Ala3928=
XM_017014586.1:c.7581C>A	XP_016870075.1:p.Ala2527=
XR_001746957.1:n.92+165G>T
XR_001746958.1:n.92+165G>T