Canonical Allele Identifier: CA375219260

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308769A>G (hg19) ; chr9:g.130433382A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433382A>G , CM000671.2:g.130433382A>G	GRCh38
NC_000009.11:g.133308769A>G , CM000671.1:g.133308769A>G	GRCh37
NC_000009.10:g.132298590A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14872A>G	ENSP00000485357.2:p.Thr4958Ala
ENST00000683500.2:c.14929A>G MANE Select	ENSP00000508292.2:p.Thr4977Ala
ENST00000623487.1:n.3275A>G
ENST00000624552.3:c.14869A>G	ENSP00000485357.1:p.Thr4957Ala
NM_001291815.1:c.14929A>G	NP_001278744.1:p.Thr4977Ala
XM_011518465.1:c.14806A>G	XP_011516767.1:p.Thr4936Ala
XM_011518466.1:c.14797A>G	XP_011516768.1:p.Thr4933Ala
XM_011518467.1:c.14752A>G	XP_011516769.1:p.Thr4918Ala
NM_001291815.2:c.14929A>G MANE Select	NP_001278744.1:p.Thr4977Ala
XM_011518465.2:c.14806A>G	XP_011516767.1:p.Thr4936Ala
XM_011518466.2:c.14797A>G	XP_011516768.1:p.Thr4933Ala
XM_011518467.2:c.14752A>G	XP_011516769.1:p.Thr4918Ala
XM_017014585.1:c.11710A>G	XP_016870074.1:p.Thr3904Ala
XM_017014586.1:c.7507A>G	XP_016870075.1:p.Thr2503Ala
XR_001746957.1:n.92+239T>C
XR_001746958.1:n.92+239T>C