Canonical Allele Identifier: CA375219331

Gene: HMCN2

Linked Data

• dbSNP Id: rs1269301653
• gnomAD v2: 9-133308785-C-T
• gnomAD v4: 9-130433398-C-T
• MyVariant Identifiers: chr9:g.133308785C>T (hg19) ; chr9:g.130433398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433398C>T , CM000671.2:g.130433398C>T	GRCh38
NC_000009.11:g.133308785C>T , CM000671.1:g.133308785C>T	GRCh37
NC_000009.10:g.132298606C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14888C>T	ENSP00000485357.2:p.Thr4963Met
ENST00000683500.2:c.14945C>T MANE Select	ENSP00000508292.2:p.Thr4982Met
ENST00000623487.1:n.3291C>T
ENST00000624552.3:c.14885C>T	ENSP00000485357.1:p.Thr4962Met
NM_001291815.1:c.14945C>T	NP_001278744.1:p.Thr4982Met
XM_011518465.1:c.14822C>T	XP_011516767.1:p.Thr4941Met
XM_011518466.1:c.14813C>T	XP_011516768.1:p.Thr4938Met
XM_011518467.1:c.14768C>T	XP_011516769.1:p.Thr4923Met
NM_001291815.2:c.14945C>T MANE Select	NP_001278744.1:p.Thr4982Met
XM_011518465.2:c.14822C>T	XP_011516767.1:p.Thr4941Met
XM_011518466.2:c.14813C>T	XP_011516768.1:p.Thr4938Met
XM_011518467.2:c.14768C>T	XP_011516769.1:p.Thr4923Met
XM_017014585.1:c.11726C>T	XP_016870074.1:p.Thr3909Met
XM_017014586.1:c.7523C>T	XP_016870075.1:p.Thr2508Met
XR_001746957.1:n.92+223G>A
XR_001746958.1:n.92+223G>A