Canonical Allele Identifier: CA14643080

Gene: EGLN2 RAB4B-EGLN2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40800457G>A , CM000681.2:g.40800457G>A	GRCh38
NC_000019.9:g.41306362G>A , CM000681.1:g.41306362G>A	GRCh37
NC_000019.8:g.45998202G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_080732.4:c.-116G>A (EGLN2) MANE Select	NP_542770.2:n.-116G>A
ENST00000303961.9:c.-116G>A (EGLN2) MANE Select	ENSP00000307080.3:n.-116G>A
NM_053046.3:c.-116G>A (EGLN2)	NP_444274.1:n.-116G>A
NM_053046.4:c.-116G>A (EGLN2)	NP_444274.1:n.-116G>A
NM_080732.3:c.-116G>A (EGLN2)	NP_542770.2:n.-116G>A
NR_037791.1:n.933G>A (RAB4B-EGLN2)
ENST00000303961.8:c.-116G>A (EGLN2)	ENSP00000307080.3:n.-116G>A
ENST00000406058.6:c.-116G>A (EGLN2)	ENSP00000385253.1:n.-116G>A
ENST00000593397.1:c.-116G>A (EGLN2)	ENSP00000472146.1:n.-116G>A
ENST00000593525.1:c.-116G>A (EGLN2)	ENSP00000469272.1:n.-116G>A
ENST00000593726.5:c.-116G>A (EGLN2)	ENSP00000469686.1:n.-116G>A
ENST00000593972.1:c.-116G>A (EGLN2)	ENSP00000471546.1:n.-116G>A
ENST00000594136.1:c.*134G>A (RAB4B-EGLN2)	ENSP00000469872.1:n.*134G>A
ENST00000594136.2:c.*134G>A (RAB4B-EGLN2)	ENSP00000469872.1:n.*134G>A
ENST00000594380.1:c.-116G>A (EGLN2)	ENSP00000470968.1:n.-116G>A
ENST00000596517.1:c.-116G>A (EGLN2)	ENSP00000472870.1:n.-116G>A
ENST00000598654.1:c.-116G>A (EGLN2)	ENSP00000471568.1:n.-116G>A
ENST00000601733.1:c.-116G>A (EGLN2)	ENSP00000469323.1:n.-116G>A