Canonical Allele Identifier: CA375219240

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308764G>T (hg19) ; chr9:g.130433377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433377G>T , CM000671.2:g.130433377G>T	GRCh38
NC_000009.11:g.133308764G>T , CM000671.1:g.133308764G>T	GRCh37
NC_000009.10:g.132298585G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14867G>T	ENSP00000485357.2:p.Cys4956Phe
ENST00000683500.2:c.14924G>T MANE Select	ENSP00000508292.2:p.Cys4975Phe
ENST00000623487.1:n.3270G>T
ENST00000624552.3:c.14864G>T	ENSP00000485357.1:p.Cys4955Phe
NM_001291815.1:c.14924G>T	NP_001278744.1:p.Cys4975Phe
XM_011518465.1:c.14801G>T	XP_011516767.1:p.Cys4934Phe
XM_011518466.1:c.14792G>T	XP_011516768.1:p.Cys4931Phe
XM_011518467.1:c.14747G>T	XP_011516769.1:p.Cys4916Phe
NM_001291815.2:c.14924G>T MANE Select	NP_001278744.1:p.Cys4975Phe
XM_011518465.2:c.14801G>T	XP_011516767.1:p.Cys4934Phe
XM_011518466.2:c.14792G>T	XP_011516768.1:p.Cys4931Phe
XM_011518467.2:c.14747G>T	XP_011516769.1:p.Cys4916Phe
XM_017014585.1:c.11705G>T	XP_016870074.1:p.Cys3902Phe
XM_017014586.1:c.7502G>T	XP_016870075.1:p.Cys2501Phe
XR_001746957.1:n.92+244C>A
XR_001746958.1:n.92+244C>A