Canonical Allele Identifier: CA1881265798

Gene: HMCN2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433069_130433071delinsCCT , CM000671.2:g.130433069_130433071delinsCCT	GRCh38
NC_000009.11:g.133308456_133308458delinsCCT , CM000671.1:g.133308456_133308458delinsCCT	GRCh37
NC_000009.10:g.132298277_132298279delinsCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-279_14838-277delinsCCT	ENSP00000485357.2:n.14838-279_14838-277delinsCCT
ENST00000683500.2:c.14895-279_14895-277delinsCCT MANE Select	ENSP00000508292.2:n.14895-279_14895-277delinsCCT
ENST00000623487.1:n.2962_2964delinsCCT
ENST00000624552.3:c.14835-279_14835-277delinsCCT	ENSP00000485357.1:n.14835-279_14835-277delinsCCT
NM_001291815.1:c.14895-279_14895-277delinsCCT	NP_001278744.1:n.14895-279_14895-277delinsCCT
XM_011518465.1:c.14772-279_14772-277delinsCCT	XP_011516767.1:n.14772-279_14772-277delinsCCT
XM_011518466.1:c.14763-279_14763-277delinsCCT	XP_011516768.1:n.14763-279_14763-277delinsCCT
XM_011518467.1:c.14718-279_14718-277delinsCCT	XP_011516769.1:n.14718-279_14718-277delinsCCT
NM_001291815.2:c.14895-279_14895-277delinsCCT MANE Select	NP_001278744.1:n.14895-279_14895-277delinsCCT
XM_011518465.2:c.14772-279_14772-277delinsCCT	XP_011516767.1:n.14772-279_14772-277delinsCCT
XM_011518466.2:c.14763-279_14763-277delinsCCT	XP_011516768.1:n.14763-279_14763-277delinsCCT
XM_011518467.2:c.14718-279_14718-277delinsCCT	XP_011516769.1:n.14718-279_14718-277delinsCCT
XM_017014585.1:c.11676-279_11676-277delinsCCT	XP_016870074.1:n.11676-279_11676-277delinsCCT
XM_017014586.1:c.7473-279_7473-277delinsCCT	XP_016870075.1:n.7473-279_7473-277delinsCCT
XR_001746957.1:n.92+550_92+552delinsAGG
XR_001746958.1:n.92+550_92+552delinsAGG