Canonical Allele Identifier: CA2692134944

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130432985-A-AGCTGTCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130432986_130432987insCTGTCGCCCG , CM000671.2:g.130432986_130432987insCTGTCGCCCG	GRCh38
NC_000009.11:g.133308373_133308374insCTGTCGCCCG , CM000671.1:g.133308373_133308374insCTGTCGCCCG	GRCh37
NC_000009.10:g.132298194_132298195insCTGTCGCCCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-362_14838-361insCTGTCGCCCG	ENSP00000485357.2:n.14838-362_14838-361insCTGTCGCCCG
ENST00000683500.2:c.14895-362_14895-361insCTGTCGCCCG MANE Select	ENSP00000508292.2:n.14895-362_14895-361insCTGTCGCCCG
ENST00000623487.1:n.2879_2880insCTGTCGCCCG
ENST00000624552.3:c.14835-362_14835-361insCTGTCGCCCG	ENSP00000485357.1:n.14835-362_14835-361insCTGTCGCCCG
NM_001291815.1:c.14895-362_14895-361insCTGTCGCCCG	NP_001278744.1:n.14895-362_14895-361insCTGTCGCCCG
XM_011518465.1:c.14772-362_14772-361insCTGTCGCCCG	XP_011516767.1:n.14772-362_14772-361insCTGTCGCCCG
XM_011518466.1:c.14763-362_14763-361insCTGTCGCCCG	XP_011516768.1:n.14763-362_14763-361insCTGTCGCCCG
XM_011518467.1:c.14718-362_14718-361insCTGTCGCCCG	XP_011516769.1:n.14718-362_14718-361insCTGTCGCCCG
NM_001291815.2:c.14895-362_14895-361insCTGTCGCCCG MANE Select	NP_001278744.1:n.14895-362_14895-361insCTGTCGCCCG
XM_011518465.2:c.14772-362_14772-361insCTGTCGCCCG	XP_011516767.1:n.14772-362_14772-361insCTGTCGCCCG
XM_011518466.2:c.14763-362_14763-361insCTGTCGCCCG	XP_011516768.1:n.14763-362_14763-361insCTGTCGCCCG
XM_011518467.2:c.14718-362_14718-361insCTGTCGCCCG	XP_011516769.1:n.14718-362_14718-361insCTGTCGCCCG
XM_017014585.1:c.11676-362_11676-361insCTGTCGCCCG	XP_016870074.1:n.11676-362_11676-361insCTGTCGCCCG
XM_017014586.1:c.7473-362_7473-361insCTGTCGCCCG	XP_016870075.1:n.7473-362_7473-361insCTGTCGCCCG
XR_001746957.1:n.92+635_92+636insGGGCGACAGC
XR_001746958.1:n.92+635_92+636insGGGCGACAGC