Canonical Allele Identifier: CA2248421821
Gene: ELAC2 HGNC NCBI

Linked Data

dbSNP Id: rs2040269664

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12993056_12993057dup , CM000679.2:g.12993056_12993057dup GRCh38
NC_000017.10:g.12896373_12896374dup , CM000679.1:g.12896373_12896374dup GRCh37
NC_000017.9:g.12837098_12837099dup NCBI36
NG_015808.1:g.30011_30012dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2254-9_2254-8dup MANE Select ENSP00000337445.4:n.2254-9_2254-8dup
ENST00000338034.8:c.2254-9_2254-8dup ENSP00000337445.4:n.2254-9_2254-8dup
ENST00000395962.6:c.2197-9_2197-8dup ENSP00000379291.1:n.2197-9_2197-8dup
ENST00000426905.7:c.2134-9_2134-8dup ENSP00000405223.3:n.2134-9_2134-8dup
ENST00000465825.5:n.2141-9_2141-8dup
ENST00000480891.5:n.2083-9_2083-8dup
ENST00000484122.5:n.3084-9_3084-8dup
ENST00000487229.6:n.1800-9_1800-8dup
ENST00000584650.5:c.1653-9_1653-8dup
NM_001165962.1:c.2134-9_2134-8dup NP_001159434.1:n.2134-9_2134-8dup
NM_018127.6:c.2254-9_2254-8dup NP_060597.4:n.2254-9_2254-8dup
NM_173717.1:c.2251-9_2251-8dup NP_776065.1:n.2251-9_2251-8dup
XM_024450850.1:c.2413-9_2413-8dup XP_024306618.1:n.2413-9_2413-8dup
XM_024450851.1:c.2335-9_2335-8dup XP_024306619.1:n.2335-9_2335-8dup
XM_024450852.1:c.2332-9_2332-8dup XP_024306620.1:n.2332-9_2332-8dup
XM_024450853.1:c.2329-9_2329-8dup XP_024306621.1:n.2329-9_2329-8dup
XM_024450854.1:c.2293-9_2293-8dup XP_024306622.1:n.2293-9_2293-8dup
XM_024450855.1:c.2212-9_2212-8dup XP_024306623.1:n.2212-9_2212-8dup
XM_024450856.1:c.2131-9_2131-8dup XP_024306624.1:n.2131-9_2131-8dup
XM_024450857.1:c.2131-9_2131-8dup XP_024306625.1:n.2131-9_2131-8dup
XM_024450858.1:c.2050-9_2050-8dup XP_024306626.1:n.2050-9_2050-8dup
XM_024450859.1:c.2047-9_2047-8dup XP_024306627.1:n.2047-9_2047-8dup
XM_024450860.1:c.1972-9_1972-8dup XP_024306628.1:n.1972-9_1972-8dup
XM_024450861.1:c.1972-9_1972-8dup XP_024306629.1:n.1972-9_1972-8dup
XM_024450862.1:c.1969-9_1969-8dup XP_024306630.1:n.1969-9_1969-8dup
NM_018127.7:c.2254-9_2254-8dup MANE Select NP_060597.4:n.2254-9_2254-8dup
NM_001165962.2:c.2134-9_2134-8dup NP_001159434.1:n.2134-9_2134-8dup
NM_173717.2:c.2251-9_2251-8dup NP_776065.1:n.2251-9_2251-8dup