Canonical Allele Identifier: CA375219471

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308821T>A (hg19) ; chr9:g.130433434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433434T>A , CM000671.2:g.130433434T>A	GRCh38
NC_000009.11:g.133308821T>A , CM000671.1:g.133308821T>A	GRCh37
NC_000009.10:g.132298642T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14924T>A	ENSP00000485357.2:p.Val4975Glu
ENST00000683500.2:c.14981T>A MANE Select	ENSP00000508292.2:p.Val4994Glu
ENST00000623487.1:n.3327T>A
ENST00000624552.3:c.14921T>A	ENSP00000485357.1:p.Val4974Glu
NM_001291815.1:c.14981T>A	NP_001278744.1:p.Val4994Glu
XM_011518465.1:c.14858T>A	XP_011516767.1:p.Val4953Glu
XM_011518466.1:c.14849T>A	XP_011516768.1:p.Val4950Glu
XM_011518467.1:c.14804T>A	XP_011516769.1:p.Val4935Glu
NM_001291815.2:c.14981T>A MANE Select	NP_001278744.1:p.Val4994Glu
XM_011518465.2:c.14858T>A	XP_011516767.1:p.Val4953Glu
XM_011518466.2:c.14849T>A	XP_011516768.1:p.Val4950Glu
XM_011518467.2:c.14804T>A	XP_011516769.1:p.Val4935Glu
XM_017014585.1:c.11762T>A	XP_016870074.1:p.Val3921Glu
XM_017014586.1:c.7559T>A	XP_016870075.1:p.Val2520Glu
XR_001746957.1:n.92+187A>T
XR_001746958.1:n.92+187A>T