Canonical Allele Identifier: CA2692134938

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130432980-C-CGTTAGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130432981_130432982insTTAGGGGTG , CM000671.2:g.130432981_130432982insTTAGGGGTG	GRCh38
NC_000009.11:g.133308368_133308369insTTAGGGGTG , CM000671.1:g.133308368_133308369insTTAGGGGTG	GRCh37
NC_000009.10:g.132298189_132298190insTTAGGGGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-367_14838-366insTTAGGGGTG	ENSP00000485357.2:n.14838-367_14838-366insTTAGGGGTG
ENST00000683500.2:c.14895-367_14895-366insTTAGGGGTG MANE Select	ENSP00000508292.2:n.14895-367_14895-366insTTAGGGGTG
ENST00000623487.1:n.2874_2875insTTAGGGGTG
ENST00000624552.3:c.14835-367_14835-366insTTAGGGGTG	ENSP00000485357.1:n.14835-367_14835-366insTTAGGGGTG
NM_001291815.1:c.14895-367_14895-366insTTAGGGGTG	NP_001278744.1:n.14895-367_14895-366insTTAGGGGTG
XM_011518465.1:c.14772-367_14772-366insTTAGGGGTG	XP_011516767.1:n.14772-367_14772-366insTTAGGGGTG
XM_011518466.1:c.14763-367_14763-366insTTAGGGGTG	XP_011516768.1:n.14763-367_14763-366insTTAGGGGTG
XM_011518467.1:c.14718-367_14718-366insTTAGGGGTG	XP_011516769.1:n.14718-367_14718-366insTTAGGGGTG
NM_001291815.2:c.14895-367_14895-366insTTAGGGGTG MANE Select	NP_001278744.1:n.14895-367_14895-366insTTAGGGGTG
XM_011518465.2:c.14772-367_14772-366insTTAGGGGTG	XP_011516767.1:n.14772-367_14772-366insTTAGGGGTG
XM_011518466.2:c.14763-367_14763-366insTTAGGGGTG	XP_011516768.1:n.14763-367_14763-366insTTAGGGGTG
XM_011518467.2:c.14718-367_14718-366insTTAGGGGTG	XP_011516769.1:n.14718-367_14718-366insTTAGGGGTG
XM_017014585.1:c.11676-367_11676-366insTTAGGGGTG	XP_016870074.1:n.11676-367_11676-366insTTAGGGGTG
XM_017014586.1:c.7473-367_7473-366insTTAGGGGTG	XP_016870075.1:n.7473-367_7473-366insTTAGGGGTG
XR_001746957.1:n.92+640_92+641insACCCCTAAC
XR_001746958.1:n.92+640_92+641insACCCCTAAC