Canonical Allele Identifier: CA9452189

Gene: EGLN2 RAB4B-EGLN2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40800894G>A , CM000681.2:g.40800894G>A	GRCh38
NC_000019.9:g.41306799G>A , CM000681.1:g.41306799G>A	GRCh37
NC_000019.8:g.45998639G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_080732.4:c.322G>A (EGLN2) MANE Select	NP_542770.2:p.Ala108Thr
ENST00000303961.9:c.322G>A (EGLN2) MANE Select	ENSP00000307080.3:p.Ala108Thr
NM_053046.3:c.322G>A (EGLN2)	NP_444274.1:p.Ala108Thr
NM_053046.4:c.322G>A (EGLN2)	NP_444274.1:p.Ala108Thr
NM_080732.3:c.322G>A (EGLN2)	NP_542770.2:p.Ala108Thr
NR_037791.1:n.1370G>A (RAB4B-EGLN2)
ENST00000303961.8:c.322G>A (EGLN2)	ENSP00000307080.3:p.Ala108Thr
ENST00000406058.6:c.322G>A (EGLN2)	ENSP00000385253.1:p.Ala108Thr
ENST00000593726.5:c.322G>A (EGLN2)	ENSP00000469686.1:p.Ala108Thr
ENST00000593972.1:c.322G>A (EGLN2)	ENSP00000471546.1:p.Ala108Thr
ENST00000594136.1:c.*571G>A (RAB4B-EGLN2)	ENSP00000469872.1:n.*571G>A
ENST00000594136.2:c.*571G>A (RAB4B-EGLN2)	ENSP00000469872.1:n.*571G>A