Canonical Allele Identifier: CA2692135587

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433428-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433431del , CM000671.2:g.130433431del	GRCh38
NC_000009.11:g.133308818del , CM000671.1:g.133308818del	GRCh37
NC_000009.10:g.132298639del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14921del	ENSP00000485357.2:p.Gly4974AlafsTer?
ENST00000683500.2:c.14978del MANE Select	ENSP00000508292.2:p.Gly4993AlafsTer?
ENST00000623487.1:n.3324del
ENST00000624552.3:c.14918del	ENSP00000485357.1:p.Gly4973AlafsTer?
NM_001291815.1:c.14978del	NP_001278744.1:p.Gly4993AlafsTer?
XM_011518465.1:c.14855del	XP_011516767.1:p.Gly4952AlafsTer?
XM_011518466.1:c.14846del	XP_011516768.1:p.Gly4949AlafsTer?
XM_011518467.1:c.14801del	XP_011516769.1:p.Gly4934AlafsTer?
NM_001291815.2:c.14978del MANE Select	NP_001278744.1:p.Gly4993AlafsTer?
XM_011518465.2:c.14855del	XP_011516767.1:p.Gly4952AlafsTer?
XM_011518466.2:c.14846del	XP_011516768.1:p.Gly4949AlafsTer?
XM_011518467.2:c.14801del	XP_011516769.1:p.Gly4934AlafsTer?
XM_017014585.1:c.11759del	XP_016870074.1:p.Gly3920AlafsTer?
XM_017014586.1:c.7556del	XP_016870075.1:p.Gly2519AlafsTer?
XR_001746957.1:n.92+192del
XR_001746958.1:n.92+192del