Canonical Allele Identifier: CA375219524

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433446-A-G
• MyVariant Identifiers: chr9:g.133308833A>G (hg19) ; chr9:g.130433446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433446A>G , CM000671.2:g.130433446A>G	GRCh38
NC_000009.11:g.133308833A>G , CM000671.1:g.133308833A>G	GRCh37
NC_000009.10:g.132298654A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14936A>G	ENSP00000485357.2:p.His4979Arg
ENST00000683500.2:c.14993A>G MANE Select	ENSP00000508292.2:p.His4998Arg
ENST00000623487.1:n.3339A>G
ENST00000624552.3:c.14933A>G	ENSP00000485357.1:p.His4978Arg
NM_001291815.1:c.14993A>G	NP_001278744.1:p.His4998Arg
XM_011518465.1:c.14870A>G	XP_011516767.1:p.His4957Arg
XM_011518466.1:c.14861A>G	XP_011516768.1:p.His4954Arg
XM_011518467.1:c.14816A>G	XP_011516769.1:p.His4939Arg
NM_001291815.2:c.14993A>G MANE Select	NP_001278744.1:p.His4998Arg
XM_011518465.2:c.14870A>G	XP_011516767.1:p.His4957Arg
XM_011518466.2:c.14861A>G	XP_011516768.1:p.His4954Arg
XM_011518467.2:c.14816A>G	XP_011516769.1:p.His4939Arg
XM_017014585.1:c.11774A>G	XP_016870074.1:p.His3925Arg
XM_017014586.1:c.7571A>G	XP_016870075.1:p.His2524Arg
XR_001746957.1:n.92+175T>C
XR_001746958.1:n.92+175T>C