Canonical Allele Identifier: CA5283051

Gene: HMCN2

Linked Data

• dbSNP Id: rs763004922
• ExAC: 9:133308824 G / C
• gnomAD v2: 9-133308824-G-C
• gnomAD v3: 9-130433437-G-C
• gnomAD v4: 9-130433437-G-C
• MyVariant Identifiers: chr9:g.133308824G>C (hg19) ; chr9:g.130433437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433437G>C , CM000671.2:g.130433437G>C	GRCh38
NC_000009.11:g.133308824G>C , CM000671.1:g.133308824G>C	GRCh37
NC_000009.10:g.132298645G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14927G>C	ENSP00000485357.2:p.Arg4976Pro
ENST00000683500.2:c.14984G>C MANE Select	ENSP00000508292.2:p.Arg4995Pro
ENST00000623487.1:n.3330G>C
ENST00000624552.3:c.14924G>C	ENSP00000485357.1:p.Arg4975Pro
NM_001291815.1:c.14984G>C	NP_001278744.1:p.Arg4995Pro
XM_011518465.1:c.14861G>C	XP_011516767.1:p.Arg4954Pro
XM_011518466.1:c.14852G>C	XP_011516768.1:p.Arg4951Pro
XM_011518467.1:c.14807G>C	XP_011516769.1:p.Arg4936Pro
NM_001291815.2:c.14984G>C MANE Select	NP_001278744.1:p.Arg4995Pro
XM_011518465.2:c.14861G>C	XP_011516767.1:p.Arg4954Pro
XM_011518466.2:c.14852G>C	XP_011516768.1:p.Arg4951Pro
XM_011518467.2:c.14807G>C	XP_011516769.1:p.Arg4936Pro
XM_017014585.1:c.11765G>C	XP_016870074.1:p.Arg3922Pro
XM_017014586.1:c.7562G>C	XP_016870075.1:p.Arg2521Pro
XR_001746957.1:n.92+184C>G
XR_001746958.1:n.92+184C>G