Canonical Allele Identifier: CA2692135585

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433423-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433427del , CM000671.2:g.130433427del	GRCh38
NC_000009.11:g.133308814del , CM000671.1:g.133308814del	GRCh37
NC_000009.10:g.132298635del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14917del	ENSP00000485357.2:p.Leu4973TrpfsTer?
ENST00000683500.2:c.14974del MANE Select	ENSP00000508292.2:p.Leu4992TrpfsTer?
ENST00000623487.1:n.3320del
ENST00000624552.3:c.14914del	ENSP00000485357.1:p.Leu4972TrpfsTer?
NM_001291815.1:c.14974del	NP_001278744.1:p.Leu4992TrpfsTer?
XM_011518465.1:c.14851del	XP_011516767.1:p.Leu4951TrpfsTer?
XM_011518466.1:c.14842del	XP_011516768.1:p.Leu4948TrpfsTer?
XM_011518467.1:c.14797del	XP_011516769.1:p.Leu4933TrpfsTer?
NM_001291815.2:c.14974del MANE Select	NP_001278744.1:p.Leu4992TrpfsTer?
XM_011518465.2:c.14851del	XP_011516767.1:p.Leu4951TrpfsTer?
XM_011518466.2:c.14842del	XP_011516768.1:p.Leu4948TrpfsTer?
XM_011518467.2:c.14797del	XP_011516769.1:p.Leu4933TrpfsTer?
XM_017014585.1:c.11755del	XP_016870074.1:p.Leu3919TrpfsTer?
XM_017014586.1:c.7552del	XP_016870075.1:p.Leu2518TrpfsTer?
XR_001746957.1:n.92+197del
XR_001746958.1:n.92+197del