Canonical Allele Identifier: CA308486177

Gene: EGLN2 RAB4B-EGLN2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40799346G>A , CM000681.2:g.40799346G>A	GRCh38
NC_000019.9:g.41305251G>A , CM000681.1:g.41305251G>A	GRCh37
NC_000019.8:g.45997091G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_080732.4:c.-235+84G>A (EGLN2) MANE Select	NP_542770.2:n.-235+84G>A
ENST00000303961.9:c.-235+84G>A (EGLN2) MANE Select	ENSP00000307080.3:n.-235+84G>A
NM_080732.3:c.-235+84G>A (EGLN2)	NP_542770.2:n.-235+84G>A
NR_037791.1:n.815-993G>A (RAB4B-EGLN2)
ENST00000303961.8:c.-235+84G>A (EGLN2)	ENSP00000307080.3:n.-235+84G>A
ENST00000594136.1:c.*16-993G>A (RAB4B-EGLN2)	ENSP00000469872.1:n.*16-993G>A
ENST00000594136.2:c.*16-993G>A (RAB4B-EGLN2)	ENSP00000469872.1:n.*16-993G>A
ENST00000596216.1:n.567-993G>A (RAB4B-EGLN2)
ENST00000596216.2:n.875-993G>A (RAB4B-EGLN2)
ENST00000598654.1:c.-235+298G>A (EGLN2)	ENSP00000471568.1:n.-235+298G>A
ENST00000601949.5:n.378-993G>A (RAB4B-EGLN2)