Canonical Allele Identifier: CA398222075

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896173T>A (hg19) ; chr17:g.12992856T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992856T>A , CM000679.2:g.12992856T>A	GRCh38
NC_000017.10:g.12896173T>A , CM000679.1:g.12896173T>A	GRCh37
NC_000017.9:g.12836898T>A	NCBI36
NG_015808.1:g.30209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2443A>T MANE Select	ENSP00000337445.4:p.Thr815Ser
ENST00000338034.8:c.2443A>T	ENSP00000337445.4:p.Thr815Ser
ENST00000395962.6:c.2386A>T	ENSP00000379291.1:p.Thr796Ser
ENST00000426905.7:c.2323A>T	ENSP00000405223.3:p.Thr775Ser
ENST00000465825.5:n.2330A>T
ENST00000480891.5:n.2272A>T
ENST00000484122.5:n.3273A>T
ENST00000487229.6:n.1989A>T
ENST00000584650.5:c.1842A>T
NM_001165962.1:c.2323A>T	NP_001159434.1:p.Thr775Ser
NM_018127.6:c.2443A>T	NP_060597.4:p.Thr815Ser
NM_173717.1:c.2440A>T	NP_776065.1:p.Thr814Ser
XM_024450850.1:c.2602A>T	XP_024306618.1:p.Thr868Ser
XM_024450851.1:c.2524A>T	XP_024306619.1:p.Thr842Ser
XM_024450852.1:c.2521A>T	XP_024306620.1:p.Thr841Ser
XM_024450853.1:c.2518A>T	XP_024306621.1:p.Thr840Ser
XM_024450854.1:c.2482A>T	XP_024306622.1:p.Thr828Ser
XM_024450855.1:c.2401A>T	XP_024306623.1:p.Thr801Ser
XM_024450856.1:c.2320A>T	XP_024306624.1:p.Thr774Ser
XM_024450857.1:c.2320A>T	XP_024306625.1:p.Thr774Ser
XM_024450858.1:c.2239A>T	XP_024306626.1:p.Thr747Ser
XM_024450859.1:c.2236A>T	XP_024306627.1:p.Thr746Ser
XM_024450860.1:c.2161A>T	XP_024306628.1:p.Thr721Ser
XM_024450861.1:c.2161A>T	XP_024306629.1:p.Thr721Ser
XM_024450862.1:c.2158A>T	XP_024306630.1:p.Thr720Ser
NM_018127.7:c.2443A>T MANE Select	NP_060597.4:p.Thr815Ser
NM_001165962.2:c.2323A>T	NP_001159434.1:p.Thr775Ser
NM_173717.2:c.2440A>T	NP_776065.1:p.Thr814Ser