Canonical Allele Identifier: CA375219293

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308778C>G (hg19) ; chr9:g.130433391C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14881C>G	ENSP00000485357.2:p.Pro4961Ala
ENST00000683500.2:c.14938C>G MANE Select	ENSP00000508292.2:p.Pro4980Ala
ENST00000623487.1:n.3284C>G
ENST00000624552.3:c.14878C>G	ENSP00000485357.1:p.Pro4960Ala
NM_001291815.1:c.14938C>G	NP_001278744.1:p.Pro4980Ala
XM_011518465.1:c.14815C>G	XP_011516767.1:p.Pro4939Ala
XM_011518466.1:c.14806C>G	XP_011516768.1:p.Pro4936Ala
XM_011518467.1:c.14761C>G	XP_011516769.1:p.Pro4921Ala
NM_001291815.2:c.14938C>G MANE Select	NP_001278744.1:p.Pro4980Ala
XM_011518465.2:c.14815C>G	XP_011516767.1:p.Pro4939Ala
XM_011518466.2:c.14806C>G	XP_011516768.1:p.Pro4936Ala
XM_011518467.2:c.14761C>G	XP_011516769.1:p.Pro4921Ala
XM_017014585.1:c.11719C>G	XP_016870074.1:p.Pro3907Ala
XM_017014586.1:c.7516C>G	XP_016870075.1:p.Pro2506Ala
XR_001746957.1:n.92+230G>C
XR_001746958.1:n.92+230G>C