Canonical Allele Identifier: CA375219354

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308791A>T (hg19) ; chr9:g.130433404A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433404A>T , CM000671.2:g.130433404A>T	GRCh38
NC_000009.11:g.133308791A>T , CM000671.1:g.133308791A>T	GRCh37
NC_000009.10:g.132298612A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14894A>T	ENSP00000485357.2:p.Gln4965Leu
ENST00000683500.2:c.14951A>T MANE Select	ENSP00000508292.2:p.Gln4984Leu
ENST00000623487.1:n.3297A>T
ENST00000624552.3:c.14891A>T	ENSP00000485357.1:p.Gln4964Leu
NM_001291815.1:c.14951A>T	NP_001278744.1:p.Gln4984Leu
XM_011518465.1:c.14828A>T	XP_011516767.1:p.Gln4943Leu
XM_011518466.1:c.14819A>T	XP_011516768.1:p.Gln4940Leu
XM_011518467.1:c.14774A>T	XP_011516769.1:p.Gln4925Leu
NM_001291815.2:c.14951A>T MANE Select	NP_001278744.1:p.Gln4984Leu
XM_011518465.2:c.14828A>T	XP_011516767.1:p.Gln4943Leu
XM_011518466.2:c.14819A>T	XP_011516768.1:p.Gln4940Leu
XM_011518467.2:c.14774A>T	XP_011516769.1:p.Gln4925Leu
XM_017014585.1:c.11732A>T	XP_016870074.1:p.Gln3911Leu
XM_017014586.1:c.7529A>T	XP_016870075.1:p.Gln2510Leu
XR_001746957.1:n.92+217T>A
XR_001746958.1:n.92+217T>A