Canonical Allele Identifier: CA467387274

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433471-C-T
• MyVariant Identifiers: chr9:g.133308858C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433471C>T , CM000671.2:g.130433471C>T	GRCh38
NC_000009.11:g.133308858C>T , CM000671.1:g.133308858C>T	GRCh37
NC_000009.10:g.132298679C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14961C>T	ENSP00000485357.2:p.Phe4987=
ENST00000683500.2:c.15018C>T MANE Select	ENSP00000508292.2:p.Phe5006=
ENST00000623487.1:n.3364C>T
ENST00000624552.3:c.14958C>T	ENSP00000485357.1:p.Phe4986=
NM_001291815.1:c.15018C>T	NP_001278744.1:p.Phe5006=
XM_011518465.1:c.14895C>T	XP_011516767.1:p.Phe4965=
XM_011518466.1:c.14886C>T	XP_011516768.1:p.Phe4962=
XM_011518467.1:c.14841C>T	XP_011516769.1:p.Phe4947=
NM_001291815.2:c.15018C>T MANE Select	NP_001278744.1:p.Phe5006=
XM_011518465.2:c.14895C>T	XP_011516767.1:p.Phe4965=
XM_011518466.2:c.14886C>T	XP_011516768.1:p.Phe4962=
XM_011518467.2:c.14841C>T	XP_011516769.1:p.Phe4947=
XM_017014585.1:c.11799C>T	XP_016870074.1:p.Phe3933=
XM_017014586.1:c.7596C>T	XP_016870075.1:p.Phe2532=
XR_001746957.1:n.92+150G>A
XR_001746958.1:n.92+150G>A