Canonical Allele Identifier: CA5283043

Gene: HMCN2

Linked Data

• dbSNP Id: rs113041177
• ExAC: 9:133308766 G / A
• gnomAD v2: 9-133308766-G-A
• gnomAD v3: 9-130433379-G-A
• gnomAD v4: 9-130433379-G-A
• MyVariant Identifiers: chr9:g.133308766G>A (hg19) ; chr9:g.130433379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433379G>A , CM000671.2:g.130433379G>A	GRCh38
NC_000009.11:g.133308766G>A , CM000671.1:g.133308766G>A	GRCh37
NC_000009.10:g.132298587G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14869G>A	ENSP00000485357.2:p.Gly4957Ser
ENST00000683500.2:c.14926G>A MANE Select	ENSP00000508292.2:p.Gly4976Ser
ENST00000623487.1:n.3272G>A
ENST00000624552.3:c.14866G>A	ENSP00000485357.1:p.Gly4956Ser
NM_001291815.1:c.14926G>A	NP_001278744.1:p.Gly4976Ser
XM_011518465.1:c.14803G>A	XP_011516767.1:p.Gly4935Ser
XM_011518466.1:c.14794G>A	XP_011516768.1:p.Gly4932Ser
XM_011518467.1:c.14749G>A	XP_011516769.1:p.Gly4917Ser
NM_001291815.2:c.14926G>A MANE Select	NP_001278744.1:p.Gly4976Ser
XM_011518465.2:c.14803G>A	XP_011516767.1:p.Gly4935Ser
XM_011518466.2:c.14794G>A	XP_011516768.1:p.Gly4932Ser
XM_011518467.2:c.14749G>A	XP_011516769.1:p.Gly4917Ser
XM_017014585.1:c.11707G>A	XP_016870074.1:p.Gly3903Ser
XM_017014586.1:c.7504G>A	XP_016870075.1:p.Gly2502Ser
XR_001746957.1:n.92+242C>T
XR_001746958.1:n.92+242C>T