Canonical Allele Identifier: CA860454156

Gene: HMCN2

Linked Data

• dbSNP Id: rs1208730140
• gnomAD v3: 9-130433005-C-T
• gnomAD v4: 9-130433005-C-T
• MyVariant Identifiers: chr9:g.133308392C>T (hg19) ; chr9:g.130433005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433005C>T , CM000671.2:g.130433005C>T	GRCh38
NC_000009.11:g.133308392C>T , CM000671.1:g.133308392C>T	GRCh37
NC_000009.10:g.132298213C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-343C>T	ENSP00000485357.2:n.14838-343C>T
ENST00000683500.2:c.14895-343C>T MANE Select	ENSP00000508292.2:n.14895-343C>T
ENST00000623487.1:n.2898C>T
ENST00000624552.3:c.14835-343C>T	ENSP00000485357.1:n.14835-343C>T
NM_001291815.1:c.14895-343C>T	NP_001278744.1:n.14895-343C>T
XM_011518465.1:c.14772-343C>T	XP_011516767.1:n.14772-343C>T
XM_011518466.1:c.14763-343C>T	XP_011516768.1:n.14763-343C>T
XM_011518467.1:c.14718-343C>T	XP_011516769.1:n.14718-343C>T
NM_001291815.2:c.14895-343C>T MANE Select	NP_001278744.1:n.14895-343C>T
XM_011518465.2:c.14772-343C>T	XP_011516767.1:n.14772-343C>T
XM_011518466.2:c.14763-343C>T	XP_011516768.1:n.14763-343C>T
XM_011518467.2:c.14718-343C>T	XP_011516769.1:n.14718-343C>T
XM_017014585.1:c.11676-343C>T	XP_016870074.1:n.11676-343C>T
XM_017014586.1:c.7473-343C>T	XP_016870075.1:n.7473-343C>T
XR_001746957.1:n.92+616G>A
XR_001746958.1:n.92+616G>A