Canonical Allele Identifier: CA2692135390

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433262-TGGCAGGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433263_130433272del , CM000671.2:g.130433263_130433272del	GRCh38
NC_000009.11:g.133308650_133308659del , CM000671.1:g.133308650_133308659del	GRCh37
NC_000009.10:g.132298471_132298480del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-85_14838-76del	ENSP00000485357.2:n.14838-85_14838-76del
ENST00000683500.2:c.14895-85_14895-76del MANE Select	ENSP00000508292.2:n.14895-85_14895-76del
ENST00000623487.1:n.3156_3165del
ENST00000624552.3:c.14835-85_14835-76del	ENSP00000485357.1:n.14835-85_14835-76del
NM_001291815.1:c.14895-85_14895-76del	NP_001278744.1:n.14895-85_14895-76del
XM_011518465.1:c.14772-85_14772-76del	XP_011516767.1:n.14772-85_14772-76del
XM_011518466.1:c.14763-85_14763-76del	XP_011516768.1:n.14763-85_14763-76del
XM_011518467.1:c.14718-85_14718-76del	XP_011516769.1:n.14718-85_14718-76del
NM_001291815.2:c.14895-85_14895-76del MANE Select	NP_001278744.1:n.14895-85_14895-76del
XM_011518465.2:c.14772-85_14772-76del	XP_011516767.1:n.14772-85_14772-76del
XM_011518466.2:c.14763-85_14763-76del	XP_011516768.1:n.14763-85_14763-76del
XM_011518467.2:c.14718-85_14718-76del	XP_011516769.1:n.14718-85_14718-76del
XM_017014585.1:c.11676-85_11676-76del	XP_016870074.1:n.11676-85_11676-76del
XM_017014586.1:c.7473-85_7473-76del	XP_016870075.1:n.7473-85_7473-76del
XR_001746957.1:n.92+349_92+358del
XR_001746958.1:n.92+349_92+358del