Canonical Allele Identifier: CA5283050

Gene: HMCN2

Linked Data

• dbSNP Id: rs563488819
• ExAC: 9:133308823 C / A
• gnomAD v2: 9-133308823-C-A
• gnomAD v3: 9-130433436-C-A
• gnomAD v4: 9-130433436-C-A
• MyVariant Identifiers: chr9:g.133308823C>A (hg19) ; chr9:g.130433436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433436C>A , CM000671.2:g.130433436C>A	GRCh38
NC_000009.11:g.133308823C>A , CM000671.1:g.133308823C>A	GRCh37
NC_000009.10:g.132298644C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14926C>A	ENSP00000485357.2:p.Arg4976Ser
ENST00000683500.2:c.14983C>A MANE Select	ENSP00000508292.2:p.Arg4995Ser
ENST00000623487.1:n.3329C>A
ENST00000624552.3:c.14923C>A	ENSP00000485357.1:p.Arg4975Ser
NM_001291815.1:c.14983C>A	NP_001278744.1:p.Arg4995Ser
XM_011518465.1:c.14860C>A	XP_011516767.1:p.Arg4954Ser
XM_011518466.1:c.14851C>A	XP_011516768.1:p.Arg4951Ser
XM_011518467.1:c.14806C>A	XP_011516769.1:p.Arg4936Ser
NM_001291815.2:c.14983C>A MANE Select	NP_001278744.1:p.Arg4995Ser
XM_011518465.2:c.14860C>A	XP_011516767.1:p.Arg4954Ser
XM_011518466.2:c.14851C>A	XP_011516768.1:p.Arg4951Ser
XM_011518467.2:c.14806C>A	XP_011516769.1:p.Arg4936Ser
XM_017014585.1:c.11764C>A	XP_016870074.1:p.Arg3922Ser
XM_017014586.1:c.7561C>A	XP_016870075.1:p.Arg2521Ser
XR_001746957.1:n.92+185G>T
XR_001746958.1:n.92+185G>T