Canonical Allele Identifier: CA467387225

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308801G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433414G>T , CM000671.2:g.130433414G>T	GRCh38
NC_000009.11:g.133308801G>T , CM000671.1:g.133308801G>T	GRCh37
NC_000009.10:g.132298622G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14904G>T	ENSP00000485357.2:p.Leu4968=
ENST00000683500.2:c.14961G>T MANE Select	ENSP00000508292.2:p.Leu4987=
ENST00000623487.1:n.3307G>T
ENST00000624552.3:c.14901G>T	ENSP00000485357.1:p.Leu4967=
NM_001291815.1:c.14961G>T	NP_001278744.1:p.Leu4987=
XM_011518465.1:c.14838G>T	XP_011516767.1:p.Leu4946=
XM_011518466.1:c.14829G>T	XP_011516768.1:p.Leu4943=
XM_011518467.1:c.14784G>T	XP_011516769.1:p.Leu4928=
NM_001291815.2:c.14961G>T MANE Select	NP_001278744.1:p.Leu4987=
XM_011518465.2:c.14838G>T	XP_011516767.1:p.Leu4946=
XM_011518466.2:c.14829G>T	XP_011516768.1:p.Leu4943=
XM_011518467.2:c.14784G>T	XP_011516769.1:p.Leu4928=
XM_017014585.1:c.11742G>T	XP_016870074.1:p.Leu3914=
XM_017014586.1:c.7539G>T	XP_016870075.1:p.Leu2513=
XR_001746957.1:n.92+207C>A
XR_001746958.1:n.92+207C>A