Canonical Allele Identifier: CA467387268

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308849C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433462C>A , CM000671.2:g.130433462C>A	GRCh38
NC_000009.11:g.133308849C>A , CM000671.1:g.133308849C>A	GRCh37
NC_000009.10:g.132298670C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14952C>A	ENSP00000485357.2:p.Leu4984=
ENST00000683500.2:c.15009C>A MANE Select	ENSP00000508292.2:p.Leu5003=
ENST00000623487.1:n.3355C>A
ENST00000624552.3:c.14949C>A	ENSP00000485357.1:p.Leu4983=
NM_001291815.1:c.15009C>A	NP_001278744.1:p.Leu5003=
XM_011518465.1:c.14886C>A	XP_011516767.1:p.Leu4962=
XM_011518466.1:c.14877C>A	XP_011516768.1:p.Leu4959=
XM_011518467.1:c.14832C>A	XP_011516769.1:p.Leu4944=
NM_001291815.2:c.15009C>A MANE Select	NP_001278744.1:p.Leu5003=
XM_011518465.2:c.14886C>A	XP_011516767.1:p.Leu4962=
XM_011518466.2:c.14877C>A	XP_011516768.1:p.Leu4959=
XM_011518467.2:c.14832C>A	XP_011516769.1:p.Leu4944=
XM_017014585.1:c.11790C>A	XP_016870074.1:p.Leu3930=
XM_017014586.1:c.7587C>A	XP_016870075.1:p.Leu2529=
XR_001746957.1:n.92+159G>T
XR_001746958.1:n.92+159G>T