Canonical Allele Identifier: CA375219295

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433391-C-A
• MyVariant Identifiers: chr9:g.133308778C>A (hg19) ; chr9:g.130433391C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433391C>A , CM000671.2:g.130433391C>A	GRCh38
NC_000009.11:g.133308778C>A , CM000671.1:g.133308778C>A	GRCh37
NC_000009.10:g.132298599C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14881C>A	ENSP00000485357.2:p.Pro4961Thr
ENST00000683500.2:c.14938C>A MANE Select	ENSP00000508292.2:p.Pro4980Thr
ENST00000623487.1:n.3284C>A
ENST00000624552.3:c.14878C>A	ENSP00000485357.1:p.Pro4960Thr
NM_001291815.1:c.14938C>A	NP_001278744.1:p.Pro4980Thr
XM_011518465.1:c.14815C>A	XP_011516767.1:p.Pro4939Thr
XM_011518466.1:c.14806C>A	XP_011516768.1:p.Pro4936Thr
XM_011518467.1:c.14761C>A	XP_011516769.1:p.Pro4921Thr
NM_001291815.2:c.14938C>A MANE Select	NP_001278744.1:p.Pro4980Thr
XM_011518465.2:c.14815C>A	XP_011516767.1:p.Pro4939Thr
XM_011518466.2:c.14806C>A	XP_011516768.1:p.Pro4936Thr
XM_011518467.2:c.14761C>A	XP_011516769.1:p.Pro4921Thr
XM_017014585.1:c.11719C>A	XP_016870074.1:p.Pro3907Thr
XM_017014586.1:c.7516C>A	XP_016870075.1:p.Pro2506Thr
XR_001746957.1:n.92+230G>T
XR_001746958.1:n.92+230G>T