Canonical Allele Identifier: CA375219612

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308856T>G (hg19) ; chr9:g.130433469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433469T>G , CM000671.2:g.130433469T>G	GRCh38
NC_000009.11:g.133308856T>G , CM000671.1:g.133308856T>G	GRCh37
NC_000009.10:g.132298677T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14959T>G	ENSP00000485357.2:p.Phe4987Val
ENST00000683500.2:c.15016T>G MANE Select	ENSP00000508292.2:p.Phe5006Val
ENST00000623487.1:n.3362T>G
ENST00000624552.3:c.14956T>G	ENSP00000485357.1:p.Phe4986Val
NM_001291815.1:c.15016T>G	NP_001278744.1:p.Phe5006Val
XM_011518465.1:c.14893T>G	XP_011516767.1:p.Phe4965Val
XM_011518466.1:c.14884T>G	XP_011516768.1:p.Phe4962Val
XM_011518467.1:c.14839T>G	XP_011516769.1:p.Phe4947Val
NM_001291815.2:c.15016T>G MANE Select	NP_001278744.1:p.Phe5006Val
XM_011518465.2:c.14893T>G	XP_011516767.1:p.Phe4965Val
XM_011518466.2:c.14884T>G	XP_011516768.1:p.Phe4962Val
XM_011518467.2:c.14839T>G	XP_011516769.1:p.Phe4947Val
XM_017014585.1:c.11797T>G	XP_016870074.1:p.Phe3933Val
XM_017014586.1:c.7594T>G	XP_016870075.1:p.Phe2532Val
XR_001746957.1:n.92+152A>C
XR_001746958.1:n.92+152A>C