Canonical Allele Identifier: CA1129482555

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844871971
• gnomAD v3: 9-130433294-ACG-A
• gnomAD v4: 9-130433294-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433296_130433297del , CM000671.2:g.130433296_130433297del	GRCh38
NC_000009.11:g.133308683_133308684del , CM000671.1:g.133308683_133308684del	GRCh37
NC_000009.10:g.132298504_132298505del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-52_14838-51del	ENSP00000485357.2:n.14838-52_14838-51del
ENST00000683500.2:c.14895-52_14895-51del MANE Select	ENSP00000508292.2:n.14895-52_14895-51del
ENST00000623487.1:n.3189_3190del
ENST00000624552.3:c.14835-52_14835-51del	ENSP00000485357.1:n.14835-52_14835-51del
NM_001291815.1:c.14895-52_14895-51del	NP_001278744.1:n.14895-52_14895-51del
XM_011518465.1:c.14772-52_14772-51del	XP_011516767.1:n.14772-52_14772-51del
XM_011518466.1:c.14763-52_14763-51del	XP_011516768.1:n.14763-52_14763-51del
XM_011518467.1:c.14718-52_14718-51del	XP_011516769.1:n.14718-52_14718-51del
NM_001291815.2:c.14895-52_14895-51del MANE Select	NP_001278744.1:n.14895-52_14895-51del
XM_011518465.2:c.14772-52_14772-51del	XP_011516767.1:n.14772-52_14772-51del
XM_011518466.2:c.14763-52_14763-51del	XP_011516768.1:n.14763-52_14763-51del
XM_011518467.2:c.14718-52_14718-51del	XP_011516769.1:n.14718-52_14718-51del
XM_017014585.1:c.11676-52_11676-51del	XP_016870074.1:n.11676-52_11676-51del
XM_017014586.1:c.7473-52_7473-51del	XP_016870075.1:n.7473-52_7473-51del
XR_001746957.1:n.92+325_92+326del
XR_001746958.1:n.92+325_92+326del