Canonical Allele Identifier: CA467387257

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308840G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433453G>A , CM000671.2:g.130433453G>A	GRCh38
NC_000009.11:g.133308840G>A , CM000671.1:g.133308840G>A	GRCh37
NC_000009.10:g.132298661G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14943G>A	ENSP00000485357.2:p.Val4981=
ENST00000683500.2:c.15000G>A MANE Select	ENSP00000508292.2:p.Val5000=
ENST00000623487.1:n.3346G>A
ENST00000624552.3:c.14940G>A	ENSP00000485357.1:p.Val4980=
NM_001291815.1:c.15000G>A	NP_001278744.1:p.Val5000=
XM_011518465.1:c.14877G>A	XP_011516767.1:p.Val4959=
XM_011518466.1:c.14868G>A	XP_011516768.1:p.Val4956=
XM_011518467.1:c.14823G>A	XP_011516769.1:p.Val4941=
NM_001291815.2:c.15000G>A MANE Select	NP_001278744.1:p.Val5000=
XM_011518465.2:c.14877G>A	XP_011516767.1:p.Val4959=
XM_011518466.2:c.14868G>A	XP_011516768.1:p.Val4956=
XM_011518467.2:c.14823G>A	XP_011516769.1:p.Val4941=
XM_017014585.1:c.11781G>A	XP_016870074.1:p.Val3927=
XM_017014586.1:c.7578G>A	XP_016870075.1:p.Val2526=
XR_001746957.1:n.92+168C>T
XR_001746958.1:n.92+168C>T