Canonical Allele Identifier: CA375219279

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433386-G-T
• MyVariant Identifiers: chr9:g.133308773G>T (hg19) ; chr9:g.130433386G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433386G>T , CM000671.2:g.130433386G>T	GRCh38
NC_000009.11:g.133308773G>T , CM000671.1:g.133308773G>T	GRCh37
NC_000009.10:g.132298594G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14876G>T	ENSP00000485357.2:p.Gly4959Val
ENST00000683500.2:c.14933G>T MANE Select	ENSP00000508292.2:p.Gly4978Val
ENST00000623487.1:n.3279G>T
ENST00000624552.3:c.14873G>T	ENSP00000485357.1:p.Gly4958Val
NM_001291815.1:c.14933G>T	NP_001278744.1:p.Gly4978Val
XM_011518465.1:c.14810G>T	XP_011516767.1:p.Gly4937Val
XM_011518466.1:c.14801G>T	XP_011516768.1:p.Gly4934Val
XM_011518467.1:c.14756G>T	XP_011516769.1:p.Gly4919Val
NM_001291815.2:c.14933G>T MANE Select	NP_001278744.1:p.Gly4978Val
XM_011518465.2:c.14810G>T	XP_011516767.1:p.Gly4937Val
XM_011518466.2:c.14801G>T	XP_011516768.1:p.Gly4934Val
XM_011518467.2:c.14756G>T	XP_011516769.1:p.Gly4919Val
XM_017014585.1:c.11714G>T	XP_016870074.1:p.Gly3905Val
XM_017014586.1:c.7511G>T	XP_016870075.1:p.Gly2504Val
XR_001746957.1:n.92+235C>A
XR_001746958.1:n.92+235C>A