Canonical Allele Identifier: CA467387234

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433423-G-A
• MyVariant Identifiers: chr9:g.133308810G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433423G>A , CM000671.2:g.130433423G>A	GRCh38
NC_000009.11:g.133308810G>A , CM000671.1:g.133308810G>A	GRCh37
NC_000009.10:g.132298631G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14913G>A	ENSP00000485357.2:p.Leu4971=
ENST00000683500.2:c.14970G>A MANE Select	ENSP00000508292.2:p.Leu4990=
ENST00000623487.1:n.3316G>A
ENST00000624552.3:c.14910G>A	ENSP00000485357.1:p.Leu4970=
NM_001291815.1:c.14970G>A	NP_001278744.1:p.Leu4990=
XM_011518465.1:c.14847G>A	XP_011516767.1:p.Leu4949=
XM_011518466.1:c.14838G>A	XP_011516768.1:p.Leu4946=
XM_011518467.1:c.14793G>A	XP_011516769.1:p.Leu4931=
NM_001291815.2:c.14970G>A MANE Select	NP_001278744.1:p.Leu4990=
XM_011518465.2:c.14847G>A	XP_011516767.1:p.Leu4949=
XM_011518466.2:c.14838G>A	XP_011516768.1:p.Leu4946=
XM_011518467.2:c.14793G>A	XP_011516769.1:p.Leu4931=
XM_017014585.1:c.11751G>A	XP_016870074.1:p.Leu3917=
XM_017014586.1:c.7548G>A	XP_016870075.1:p.Leu2516=
XR_001746957.1:n.92+198C>T
XR_001746958.1:n.92+198C>T