Canonical Allele Identifier: CA200583067

Gene: HMCN2

Linked Data

• dbSNP Id: rs948815718
• gnomAD v3: 9-130433391-C-T
• gnomAD v4: 9-130433391-C-T
• MyVariant Identifiers: chr9:g.133308778C>T (hg19) ; chr9:g.130433391C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14881C>T	ENSP00000485357.2:p.Pro4961Ser
ENST00000683500.2:c.14938C>T MANE Select	ENSP00000508292.2:p.Pro4980Ser
ENST00000623487.1:n.3284C>T
ENST00000624552.3:c.14878C>T	ENSP00000485357.1:p.Pro4960Ser
NM_001291815.1:c.14938C>T	NP_001278744.1:p.Pro4980Ser
XM_011518465.1:c.14815C>T	XP_011516767.1:p.Pro4939Ser
XM_011518466.1:c.14806C>T	XP_011516768.1:p.Pro4936Ser
XM_011518467.1:c.14761C>T	XP_011516769.1:p.Pro4921Ser
NM_001291815.2:c.14938C>T MANE Select	NP_001278744.1:p.Pro4980Ser
XM_011518465.2:c.14815C>T	XP_011516767.1:p.Pro4939Ser
XM_011518466.2:c.14806C>T	XP_011516768.1:p.Pro4936Ser
XM_011518467.2:c.14761C>T	XP_011516769.1:p.Pro4921Ser
XM_017014585.1:c.11719C>T	XP_016870074.1:p.Pro3907Ser
XM_017014586.1:c.7516C>T	XP_016870075.1:p.Pro2506Ser
XR_001746957.1:n.92+230G>A
XR_001746958.1:n.92+230G>A