Canonical Allele Identifier: CA375219382

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433410-G-T
• MyVariant Identifiers: chr9:g.133308797G>T (hg19) ; chr9:g.130433410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433410G>T , CM000671.2:g.130433410G>T	GRCh38
NC_000009.11:g.133308797G>T , CM000671.1:g.133308797G>T	GRCh37
NC_000009.10:g.132298618G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14900G>T	ENSP00000485357.2:p.Arg4967Leu
ENST00000683500.2:c.14957G>T MANE Select	ENSP00000508292.2:p.Arg4986Leu
ENST00000623487.1:n.3303G>T
ENST00000624552.3:c.14897G>T	ENSP00000485357.1:p.Arg4966Leu
NM_001291815.1:c.14957G>T	NP_001278744.1:p.Arg4986Leu
XM_011518465.1:c.14834G>T	XP_011516767.1:p.Arg4945Leu
XM_011518466.1:c.14825G>T	XP_011516768.1:p.Arg4942Leu
XM_011518467.1:c.14780G>T	XP_011516769.1:p.Arg4927Leu
NM_001291815.2:c.14957G>T MANE Select	NP_001278744.1:p.Arg4986Leu
XM_011518465.2:c.14834G>T	XP_011516767.1:p.Arg4945Leu
XM_011518466.2:c.14825G>T	XP_011516768.1:p.Arg4942Leu
XM_011518467.2:c.14780G>T	XP_011516769.1:p.Arg4927Leu
XM_017014585.1:c.11738G>T	XP_016870074.1:p.Arg3913Leu
XM_017014586.1:c.7535G>T	XP_016870075.1:p.Arg2512Leu
XR_001746957.1:n.92+211C>A
XR_001746958.1:n.92+211C>A