Canonical Allele Identifier: CA2692135218

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433179-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433180_130433182del , CM000671.2:g.130433180_130433182del	GRCh38
NC_000009.11:g.133308567_133308569del , CM000671.1:g.133308567_133308569del	GRCh37
NC_000009.10:g.132298388_132298390del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-168_14838-166del	ENSP00000485357.2:n.14838-168_14838-166del
ENST00000683500.2:c.14895-168_14895-166del MANE Select	ENSP00000508292.2:n.14895-168_14895-166del
ENST00000623487.1:n.3073_3075del
ENST00000624552.3:c.14835-168_14835-166del	ENSP00000485357.1:n.14835-168_14835-166del
NM_001291815.1:c.14895-168_14895-166del	NP_001278744.1:n.14895-168_14895-166del
XM_011518465.1:c.14772-168_14772-166del	XP_011516767.1:n.14772-168_14772-166del
XM_011518466.1:c.14763-168_14763-166del	XP_011516768.1:n.14763-168_14763-166del
XM_011518467.1:c.14718-168_14718-166del	XP_011516769.1:n.14718-168_14718-166del
NM_001291815.2:c.14895-168_14895-166del MANE Select	NP_001278744.1:n.14895-168_14895-166del
XM_011518465.2:c.14772-168_14772-166del	XP_011516767.1:n.14772-168_14772-166del
XM_011518466.2:c.14763-168_14763-166del	XP_011516768.1:n.14763-168_14763-166del
XM_011518467.2:c.14718-168_14718-166del	XP_011516769.1:n.14718-168_14718-166del
XM_017014585.1:c.11676-168_11676-166del	XP_016870074.1:n.11676-168_11676-166del
XM_017014586.1:c.7473-168_7473-166del	XP_016870075.1:n.7473-168_7473-166del
XR_001746957.1:n.92+439_92+441del
XR_001746958.1:n.92+439_92+441del