Canonical Allele Identifier: CA1610232078
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1781944552
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982067_10982069del , CM000668.2:g.10982067_10982069del GRCh38
NC_000006.11:g.10982300_10982302del , CM000668.1:g.10982300_10982302del GRCh37
NC_000006.10:g.11090286_11090288del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1713_*1715del MANE Select ENSP00000346693.3:n.*1713_*1715del
ENST00000354666.3:c.*1713_*1715del ENSP00000346693.3:n.*1713_*1715del
NM_017770.3:c.*1713_*1715del NP_060240.3:n.*1713_*1715del
XM_011514716.1:c.*1713_*1715del XP_011513018.1:n.*1713_*1715del
XM_011514717.1:c.*1713_*1715del XP_011513019.1:n.*1713_*1715del
XM_011514716.3:c.*1713_*1715del XP_011513018.1:n.*1713_*1715del
NM_017770.4:c.*1713_*1715del MANE Select NP_060240.3:n.*1713_*1715del
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