Canonical Allele Identifier: CA2336157057
Gene: EGLN2 HGNC NCBI
RAB4B-EGLN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40804666A>C , CM000681.2:g.40804666A>C GRCh38
NC_000019.9:g.41310571A>C , CM000681.1:g.41310571A>C GRCh37
NC_000019.8:g.46002411A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303961.9:c.844-1889A>C (EGLN2) MANE Select ENSP00000307080.3:n.844-1889A>C
ENST00000594136.2:c.*1093-1889A>C (RAB4B-EGLN2) ENSP00000469872.1:n.*1093-1889A>C
ENST00000303961.8:c.844-1889A>C (EGLN2) ENSP00000307080.3:n.844-1889A>C
ENST00000406058.6:c.844-1889A>C (EGLN2) ENSP00000385253.1:n.844-1889A>C
ENST00000593445.5:n.197A>C (EGLN2)
ENST00000593726.5:c.844-1889A>C (EGLN2) ENSP00000469686.1:n.844-1889A>C
ENST00000594136.1:c.*1093-1889A>C (RAB4B-EGLN2) ENSP00000469872.1:n.*1093-1889A>C
ENST00000594140.5:c.-4+1431A>C (EGLN2) ENSP00000472414.1:n.-4+1431A>C
ENST00000597746.5:c.127-2472A>C (EGLN2) ENSP00000472991.1:n.127-2472A>C
ENST00000599579.5:n.594A>C (EGLN2)
ENST00000601627.1:c.119+3251A>C
NM_053046.3:c.844-1889A>C (EGLN2) NP_444274.1:n.844-1889A>C
NM_080732.3:c.844-1889A>C (EGLN2) NP_542770.2:n.844-1889A>C
NR_037791.1:n.1892-1889A>C (RAB4B-EGLN2)
NM_080732.4:c.844-1889A>C (EGLN2) MANE Select NP_542770.2:n.844-1889A>C
NM_053046.4:c.844-1889A>C (EGLN2) NP_444274.1:n.844-1889A>C