Canonical Allele Identifier: CA200582717

Gene: HMCN2

Linked Data

• dbSNP Id: rs868811841
• gnomAD v2: 9-133308499-C-A
• gnomAD v3: 9-130433112-C-A
• gnomAD v4: 9-130433112-C-A
• MyVariant Identifiers: chr9:g.133308499C>A (hg19) ; chr9:g.130433112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433112C>A , CM000671.2:g.130433112C>A	GRCh38
NC_000009.11:g.133308499C>A , CM000671.1:g.133308499C>A	GRCh37
NC_000009.10:g.132298320C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-236C>A	ENSP00000485357.2:n.14838-236C>A
ENST00000683500.2:c.14895-236C>A MANE Select	ENSP00000508292.2:n.14895-236C>A
ENST00000623487.1:n.3005C>A
ENST00000624552.3:c.14835-236C>A	ENSP00000485357.1:n.14835-236C>A
NM_001291815.1:c.14895-236C>A	NP_001278744.1:n.14895-236C>A
XM_011518465.1:c.14772-236C>A	XP_011516767.1:n.14772-236C>A
XM_011518466.1:c.14763-236C>A	XP_011516768.1:n.14763-236C>A
XM_011518467.1:c.14718-236C>A	XP_011516769.1:n.14718-236C>A
NM_001291815.2:c.14895-236C>A MANE Select	NP_001278744.1:n.14895-236C>A
XM_011518465.2:c.14772-236C>A	XP_011516767.1:n.14772-236C>A
XM_011518466.2:c.14763-236C>A	XP_011516768.1:n.14763-236C>A
XM_011518467.2:c.14718-236C>A	XP_011516769.1:n.14718-236C>A
XM_017014585.1:c.11676-236C>A	XP_016870074.1:n.11676-236C>A
XM_017014586.1:c.7473-236C>A	XP_016870075.1:n.7473-236C>A
XR_001746957.1:n.92+509G>T
XR_001746958.1:n.92+509G>T