Canonical Allele Identifier: CA5283052

Gene: HMCN2

Linked Data

• dbSNP Id: rs763915336
• ExAC: 9:133308835 G / A
• gnomAD v2: 9-133308835-G-A
• gnomAD v3: 9-130433448-G-A
• gnomAD v4: 9-130433448-G-A
• MyVariant Identifiers: chr9:g.133308835G>A (hg19) ; chr9:g.130433448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433448G>A , CM000671.2:g.130433448G>A	GRCh38
NC_000009.11:g.133308835G>A , CM000671.1:g.133308835G>A	GRCh37
NC_000009.10:g.132298656G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14938G>A	ENSP00000485357.2:p.Asp4980Asn
ENST00000683500.2:c.14995G>A MANE Select	ENSP00000508292.2:p.Asp4999Asn
ENST00000623487.1:n.3341G>A
ENST00000624552.3:c.14935G>A	ENSP00000485357.1:p.Asp4979Asn
NM_001291815.1:c.14995G>A	NP_001278744.1:p.Asp4999Asn
XM_011518465.1:c.14872G>A	XP_011516767.1:p.Asp4958Asn
XM_011518466.1:c.14863G>A	XP_011516768.1:p.Asp4955Asn
XM_011518467.1:c.14818G>A	XP_011516769.1:p.Asp4940Asn
NM_001291815.2:c.14995G>A MANE Select	NP_001278744.1:p.Asp4999Asn
XM_011518465.2:c.14872G>A	XP_011516767.1:p.Asp4958Asn
XM_011518466.2:c.14863G>A	XP_011516768.1:p.Asp4955Asn
XM_011518467.2:c.14818G>A	XP_011516769.1:p.Asp4940Asn
XM_017014585.1:c.11776G>A	XP_016870074.1:p.Asp3926Asn
XM_017014586.1:c.7573G>A	XP_016870075.1:p.Asp2525Asn
XR_001746957.1:n.92+173C>T
XR_001746958.1:n.92+173C>T