Canonical Allele Identifier: CA398222407

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896341T>G (hg19) ; chr17:g.12993024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993024T>G , CM000679.2:g.12993024T>G	GRCh38
NC_000017.10:g.12896341T>G , CM000679.1:g.12896341T>G	GRCh37
NC_000017.9:g.12837066T>G	NCBI36
NG_015808.1:g.30041A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2275A>C MANE Select	ENSP00000337445.4:p.Thr759Pro
ENST00000338034.8:c.2275A>C	ENSP00000337445.4:p.Thr759Pro
ENST00000395962.6:c.2218A>C	ENSP00000379291.1:p.Thr740Pro
ENST00000426905.7:c.2155A>C	ENSP00000405223.3:p.Thr719Pro
ENST00000465825.5:n.2162A>C
ENST00000480891.5:n.2104A>C
ENST00000484122.5:n.3105A>C
ENST00000487229.6:n.1821A>C
ENST00000584650.5:c.1674A>C
NM_001165962.1:c.2155A>C	NP_001159434.1:p.Thr719Pro
NM_018127.6:c.2275A>C	NP_060597.4:p.Thr759Pro
NM_173717.1:c.2272A>C	NP_776065.1:p.Thr758Pro
XM_024450850.1:c.2434A>C	XP_024306618.1:p.Thr812Pro
XM_024450851.1:c.2356A>C	XP_024306619.1:p.Thr786Pro
XM_024450852.1:c.2353A>C	XP_024306620.1:p.Thr785Pro
XM_024450853.1:c.2350A>C	XP_024306621.1:p.Thr784Pro
XM_024450854.1:c.2314A>C	XP_024306622.1:p.Thr772Pro
XM_024450855.1:c.2233A>C	XP_024306623.1:p.Thr745Pro
XM_024450856.1:c.2152A>C	XP_024306624.1:p.Thr718Pro
XM_024450857.1:c.2152A>C	XP_024306625.1:p.Thr718Pro
XM_024450858.1:c.2071A>C	XP_024306626.1:p.Thr691Pro
XM_024450859.1:c.2068A>C	XP_024306627.1:p.Thr690Pro
XM_024450860.1:c.1993A>C	XP_024306628.1:p.Thr665Pro
XM_024450861.1:c.1993A>C	XP_024306629.1:p.Thr665Pro
XM_024450862.1:c.1990A>C	XP_024306630.1:p.Thr664Pro
NM_018127.7:c.2275A>C MANE Select	NP_060597.4:p.Thr759Pro
NM_001165962.2:c.2155A>C	NP_001159434.1:p.Thr719Pro
NM_173717.2:c.2272A>C	NP_776065.1:p.Thr758Pro