Canonical Allele Identifier: CA375219575

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308847C>G (hg19) ; chr9:g.130433460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433460C>G , CM000671.2:g.130433460C>G	GRCh38
NC_000009.11:g.133308847C>G , CM000671.1:g.133308847C>G	GRCh37
NC_000009.10:g.132298668C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14950C>G	ENSP00000485357.2:p.Leu4984Val
ENST00000683500.2:c.15007C>G MANE Select	ENSP00000508292.2:p.Leu5003Val
ENST00000623487.1:n.3353C>G
ENST00000624552.3:c.14947C>G	ENSP00000485357.1:p.Leu4983Val
NM_001291815.1:c.15007C>G	NP_001278744.1:p.Leu5003Val
XM_011518465.1:c.14884C>G	XP_011516767.1:p.Leu4962Val
XM_011518466.1:c.14875C>G	XP_011516768.1:p.Leu4959Val
XM_011518467.1:c.14830C>G	XP_011516769.1:p.Leu4944Val
NM_001291815.2:c.15007C>G MANE Select	NP_001278744.1:p.Leu5003Val
XM_011518465.2:c.14884C>G	XP_011516767.1:p.Leu4962Val
XM_011518466.2:c.14875C>G	XP_011516768.1:p.Leu4959Val
XM_011518467.2:c.14830C>G	XP_011516769.1:p.Leu4944Val
XM_017014585.1:c.11788C>G	XP_016870074.1:p.Leu3930Val
XM_017014586.1:c.7585C>G	XP_016870075.1:p.Leu2529Val
XR_001746957.1:n.92+161G>C
XR_001746958.1:n.92+161G>C