Canonical Allele Identifier: CA467387229

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433417-G-T
• MyVariant Identifiers: chr9:g.133308804G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433417G>T , CM000671.2:g.130433417G>T	GRCh38
NC_000009.11:g.133308804G>T , CM000671.1:g.133308804G>T	GRCh37
NC_000009.10:g.132298625G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14907G>T	ENSP00000485357.2:p.Leu4969=
ENST00000683500.2:c.14964G>T MANE Select	ENSP00000508292.2:p.Leu4988=
ENST00000623487.1:n.3310G>T
ENST00000624552.3:c.14904G>T	ENSP00000485357.1:p.Leu4968=
NM_001291815.1:c.14964G>T	NP_001278744.1:p.Leu4988=
XM_011518465.1:c.14841G>T	XP_011516767.1:p.Leu4947=
XM_011518466.1:c.14832G>T	XP_011516768.1:p.Leu4944=
XM_011518467.1:c.14787G>T	XP_011516769.1:p.Leu4929=
NM_001291815.2:c.14964G>T MANE Select	NP_001278744.1:p.Leu4988=
XM_011518465.2:c.14841G>T	XP_011516767.1:p.Leu4947=
XM_011518466.2:c.14832G>T	XP_011516768.1:p.Leu4944=
XM_011518467.2:c.14787G>T	XP_011516769.1:p.Leu4929=
XM_017014585.1:c.11745G>T	XP_016870074.1:p.Leu3915=
XM_017014586.1:c.7542G>T	XP_016870075.1:p.Leu2514=
XR_001746957.1:n.92+204C>A
XR_001746958.1:n.92+204C>A