Canonical Allele Identifier: CA860454283

Gene: HMCN2

Linked Data

• dbSNP Id: rs1281544547
• gnomAD v3: 9-130433308-C-G
• gnomAD v4: 9-130433308-C-G
• MyVariant Identifiers: chr9:g.133308695C>G (hg19) ; chr9:g.130433308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433308C>G , CM000671.2:g.130433308C>G	GRCh38
NC_000009.11:g.133308695C>G , CM000671.1:g.133308695C>G	GRCh37
NC_000009.10:g.132298516C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-40C>G	ENSP00000485357.2:n.14838-40C>G
ENST00000683500.2:c.14895-40C>G MANE Select	ENSP00000508292.2:n.14895-40C>G
ENST00000623487.1:n.3201C>G
ENST00000624552.3:c.14835-40C>G	ENSP00000485357.1:n.14835-40C>G
NM_001291815.1:c.14895-40C>G	NP_001278744.1:n.14895-40C>G
XM_011518465.1:c.14772-40C>G	XP_011516767.1:n.14772-40C>G
XM_011518466.1:c.14763-40C>G	XP_011516768.1:n.14763-40C>G
XM_011518467.1:c.14718-40C>G	XP_011516769.1:n.14718-40C>G
NM_001291815.2:c.14895-40C>G MANE Select	NP_001278744.1:n.14895-40C>G
XM_011518465.2:c.14772-40C>G	XP_011516767.1:n.14772-40C>G
XM_011518466.2:c.14763-40C>G	XP_011516768.1:n.14763-40C>G
XM_011518467.2:c.14718-40C>G	XP_011516769.1:n.14718-40C>G
XM_017014585.1:c.11676-40C>G	XP_016870074.1:n.11676-40C>G
XM_017014586.1:c.7473-40C>G	XP_016870075.1:n.7473-40C>G
XR_001746957.1:n.92+313G>C
XR_001746958.1:n.92+313G>C