Canonical Allele Identifier: CA375219500

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433442-C-A
• MyVariant Identifiers: chr9:g.133308829C>A (hg19) ; chr9:g.130433442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433442C>A , CM000671.2:g.130433442C>A	GRCh38
NC_000009.11:g.133308829C>A , CM000671.1:g.133308829C>A	GRCh37
NC_000009.10:g.132298650C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14932C>A	ENSP00000485357.2:p.His4978Asn
ENST00000683500.2:c.14989C>A MANE Select	ENSP00000508292.2:p.His4997Asn
ENST00000623487.1:n.3335C>A
ENST00000624552.3:c.14929C>A	ENSP00000485357.1:p.His4977Asn
NM_001291815.1:c.14989C>A	NP_001278744.1:p.His4997Asn
XM_011518465.1:c.14866C>A	XP_011516767.1:p.His4956Asn
XM_011518466.1:c.14857C>A	XP_011516768.1:p.His4953Asn
XM_011518467.1:c.14812C>A	XP_011516769.1:p.His4938Asn
NM_001291815.2:c.14989C>A MANE Select	NP_001278744.1:p.His4997Asn
XM_011518465.2:c.14866C>A	XP_011516767.1:p.His4956Asn
XM_011518466.2:c.14857C>A	XP_011516768.1:p.His4953Asn
XM_011518467.2:c.14812C>A	XP_011516769.1:p.His4938Asn
XM_017014585.1:c.11770C>A	XP_016870074.1:p.His3924Asn
XM_017014586.1:c.7567C>A	XP_016870075.1:p.His2523Asn
XR_001746957.1:n.92+179G>T
XR_001746958.1:n.92+179G>T