Canonical Allele Identifier: CA467387282

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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