Canonical Allele Identifier: CA467387231

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433420-G-A
• MyVariant Identifiers: chr9:g.133308807G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433420G>A , CM000671.2:g.130433420G>A	GRCh38
NC_000009.11:g.133308807G>A , CM000671.1:g.133308807G>A	GRCh37
NC_000009.10:g.132298628G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14910G>A	ENSP00000485357.2:p.Pro4970=
ENST00000683500.2:c.14967G>A MANE Select	ENSP00000508292.2:p.Pro4989=
ENST00000623487.1:n.3313G>A
ENST00000624552.3:c.14907G>A	ENSP00000485357.1:p.Pro4969=
NM_001291815.1:c.14967G>A	NP_001278744.1:p.Pro4989=
XM_011518465.1:c.14844G>A	XP_011516767.1:p.Pro4948=
XM_011518466.1:c.14835G>A	XP_011516768.1:p.Pro4945=
XM_011518467.1:c.14790G>A	XP_011516769.1:p.Pro4930=
NM_001291815.2:c.14967G>A MANE Select	NP_001278744.1:p.Pro4989=
XM_011518465.2:c.14844G>A	XP_011516767.1:p.Pro4948=
XM_011518466.2:c.14835G>A	XP_011516768.1:p.Pro4945=
XM_011518467.2:c.14790G>A	XP_011516769.1:p.Pro4930=
XM_017014585.1:c.11748G>A	XP_016870074.1:p.Pro3916=
XM_017014586.1:c.7545G>A	XP_016870075.1:p.Pro2515=
XR_001746957.1:n.92+201C>T
XR_001746958.1:n.92+201C>T