Canonical Allele Identifier: CA467387247

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433435-G-T
• MyVariant Identifiers: chr9:g.133308822G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433435G>T , CM000671.2:g.130433435G>T	GRCh38
NC_000009.11:g.133308822G>T , CM000671.1:g.133308822G>T	GRCh37
NC_000009.10:g.132298643G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14925G>T	ENSP00000485357.2:p.Val4975=
ENST00000683500.2:c.14982G>T MANE Select	ENSP00000508292.2:p.Val4994=
ENST00000623487.1:n.3328G>T
ENST00000624552.3:c.14922G>T	ENSP00000485357.1:p.Val4974=
NM_001291815.1:c.14982G>T	NP_001278744.1:p.Val4994=
XM_011518465.1:c.14859G>T	XP_011516767.1:p.Val4953=
XM_011518466.1:c.14850G>T	XP_011516768.1:p.Val4950=
XM_011518467.1:c.14805G>T	XP_011516769.1:p.Val4935=
NM_001291815.2:c.14982G>T MANE Select	NP_001278744.1:p.Val4994=
XM_011518465.2:c.14859G>T	XP_011516767.1:p.Val4953=
XM_011518466.2:c.14850G>T	XP_011516768.1:p.Val4950=
XM_011518467.2:c.14805G>T	XP_011516769.1:p.Val4935=
XM_017014585.1:c.11763G>T	XP_016870074.1:p.Val3921=
XM_017014586.1:c.7560G>T	XP_016870075.1:p.Val2520=
XR_001746957.1:n.92+186C>A
XR_001746958.1:n.92+186C>A