Canonical Allele Identifier: CA200582622

Gene: HMCN2

Linked Data

• dbSNP Id: rs1046734985
• gnomAD v4: 9-130432952-G-T
• MyVariant Identifiers: chr9:g.133308339G>T (hg19) ; chr9:g.130432952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130432952G>T , CM000671.2:g.130432952G>T	GRCh38
NC_000009.11:g.133308339G>T , CM000671.1:g.133308339G>T	GRCh37
NC_000009.10:g.132298160G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-396G>T	ENSP00000485357.2:n.14838-396G>T
ENST00000683500.2:c.14895-396G>T MANE Select	ENSP00000508292.2:n.14895-396G>T
ENST00000623487.1:n.2845G>T
ENST00000624552.3:c.14835-396G>T	ENSP00000485357.1:n.14835-396G>T
NM_001291815.1:c.14895-396G>T	NP_001278744.1:n.14895-396G>T
XM_011518465.1:c.14772-396G>T	XP_011516767.1:n.14772-396G>T
XM_011518466.1:c.14763-396G>T	XP_011516768.1:n.14763-396G>T
XM_011518467.1:c.14718-396G>T	XP_011516769.1:n.14718-396G>T
NM_001291815.2:c.14895-396G>T MANE Select	NP_001278744.1:n.14895-396G>T
XM_011518465.2:c.14772-396G>T	XP_011516767.1:n.14772-396G>T
XM_011518466.2:c.14763-396G>T	XP_011516768.1:n.14763-396G>T
XM_011518467.2:c.14718-396G>T	XP_011516769.1:n.14718-396G>T
XM_017014585.1:c.11676-396G>T	XP_016870074.1:n.11676-396G>T
XM_017014586.1:c.7473-396G>T	XP_016870075.1:n.7473-396G>T
XR_001746957.1:n.92+669C>A
XR_001746958.1:n.92+669C>A