Canonical Allele Identifier: CA860454176

Gene: HMCN2

Linked Data

• dbSNP Id: rs1169017908
• gnomAD v2: 9-133308456-CCT-C
• gnomAD v3: 9-130433069-CCT-C
• gnomAD v4: 9-130433069-CCT-C
• MyVariant Identifiers: chr9:g.133308457_133308458del (hg19) ; chr9:g.130433070_130433071del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433070_130433071del , CM000671.2:g.130433070_130433071del	GRCh38
NC_000009.11:g.133308457_133308458del , CM000671.1:g.133308457_133308458del	GRCh37
NC_000009.10:g.132298278_132298279del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-278_14838-277del	ENSP00000485357.2:n.14838-278_14838-277del
ENST00000683500.2:c.14895-278_14895-277del MANE Select	ENSP00000508292.2:n.14895-278_14895-277del
ENST00000623487.1:n.2963_2964del
ENST00000624552.3:c.14835-278_14835-277del	ENSP00000485357.1:n.14835-278_14835-277del
NM_001291815.1:c.14895-278_14895-277del	NP_001278744.1:n.14895-278_14895-277del
XM_011518465.1:c.14772-278_14772-277del	XP_011516767.1:n.14772-278_14772-277del
XM_011518466.1:c.14763-278_14763-277del	XP_011516768.1:n.14763-278_14763-277del
XM_011518467.1:c.14718-278_14718-277del	XP_011516769.1:n.14718-278_14718-277del
NM_001291815.2:c.14895-278_14895-277del MANE Select	NP_001278744.1:n.14895-278_14895-277del
XM_011518465.2:c.14772-278_14772-277del	XP_011516767.1:n.14772-278_14772-277del
XM_011518466.2:c.14763-278_14763-277del	XP_011516768.1:n.14763-278_14763-277del
XM_011518467.2:c.14718-278_14718-277del	XP_011516769.1:n.14718-278_14718-277del
XM_017014585.1:c.11676-278_11676-277del	XP_016870074.1:n.11676-278_11676-277del
XM_017014586.1:c.7473-278_7473-277del	XP_016870075.1:n.7473-278_7473-277del
XR_001746957.1:n.92+550_92+551del
XR_001746958.1:n.92+550_92+551del