Canonical Allele Identifier: CA467387280

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433480-C-A
• MyVariant Identifiers: chr9:g.133308867C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433480C>A , CM000671.2:g.130433480C>A	GRCh38
NC_000009.11:g.133308867C>A , CM000671.1:g.133308867C>A	GRCh37
NC_000009.10:g.132298688C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14970C>A	ENSP00000485357.2:p.Val4990=
ENST00000683500.2:c.15027C>A MANE Select	ENSP00000508292.2:p.Val5009=
ENST00000623487.1:n.3373C>A
ENST00000624552.3:c.14967C>A	ENSP00000485357.1:p.Val4989=
NM_001291815.1:c.15027C>A	NP_001278744.1:p.Val5009=
XM_011518465.1:c.14904C>A	XP_011516767.1:p.Val4968=
XM_011518466.1:c.14895C>A	XP_011516768.1:p.Val4965=
XM_011518467.1:c.14850C>A	XP_011516769.1:p.Val4950=
NM_001291815.2:c.15027C>A MANE Select	NP_001278744.1:p.Val5009=
XM_011518465.2:c.14904C>A	XP_011516767.1:p.Val4968=
XM_011518466.2:c.14895C>A	XP_011516768.1:p.Val4965=
XM_011518467.2:c.14850C>A	XP_011516769.1:p.Val4950=
XM_017014585.1:c.11808C>A	XP_016870074.1:p.Val3936=
XM_017014586.1:c.7605C>A	XP_016870075.1:p.Val2535=
XR_001746957.1:n.92+141G>T
XR_001746958.1:n.92+141G>T