Canonical Allele Identifier: CA200583126

Gene: HMCN2

Linked Data

• dbSNP Id: rs934686596
• gnomAD v2: 9-133308795-C-T
• gnomAD v3: 9-130433408-C-T
• gnomAD v4: 9-130433408-C-T
• MyVariant Identifiers: chr9:g.133308795C>T (hg19) ; chr9:g.130433408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433408C>T , CM000671.2:g.130433408C>T	GRCh38
NC_000009.11:g.133308795C>T , CM000671.1:g.133308795C>T	GRCh37
NC_000009.10:g.132298616C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14898C>T	ENSP00000485357.2:p.Tyr4966=
ENST00000683500.2:c.14955C>T MANE Select	ENSP00000508292.2:p.Tyr4985=
ENST00000623487.1:n.3301C>T
ENST00000624552.3:c.14895C>T	ENSP00000485357.1:p.Tyr4965=
NM_001291815.1:c.14955C>T	NP_001278744.1:p.Tyr4985=
XM_011518465.1:c.14832C>T	XP_011516767.1:p.Tyr4944=
XM_011518466.1:c.14823C>T	XP_011516768.1:p.Tyr4941=
XM_011518467.1:c.14778C>T	XP_011516769.1:p.Tyr4926=
NM_001291815.2:c.14955C>T MANE Select	NP_001278744.1:p.Tyr4985=
XM_011518465.2:c.14832C>T	XP_011516767.1:p.Tyr4944=
XM_011518466.2:c.14823C>T	XP_011516768.1:p.Tyr4941=
XM_011518467.2:c.14778C>T	XP_011516769.1:p.Tyr4926=
XM_017014585.1:c.11736C>T	XP_016870074.1:p.Tyr3912=
XM_017014586.1:c.7533C>T	XP_016870075.1:p.Tyr2511=
XR_001746957.1:n.92+213G>A
XR_001746958.1:n.92+213G>A