Canonical Allele Identifier: CA498009570

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896171T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992854T>G , CM000679.2:g.12992854T>G	GRCh38
NC_000017.10:g.12896171T>G , CM000679.1:g.12896171T>G	GRCh37
NC_000017.9:g.12836896T>G	NCBI36
NG_015808.1:g.30211A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2445A>C MANE Select	ENSP00000337445.4:p.Thr815=
ENST00000338034.8:c.2445A>C	ENSP00000337445.4:p.Thr815=
ENST00000395962.6:c.2388A>C	ENSP00000379291.1:p.Thr796=
ENST00000426905.7:c.2325A>C	ENSP00000405223.3:p.Thr775=
ENST00000465825.5:n.2332A>C
ENST00000480891.5:n.2274A>C
ENST00000484122.5:n.3275A>C
ENST00000487229.6:n.1991A>C
ENST00000584650.5:c.1844A>C
NM_001165962.1:c.2325A>C	NP_001159434.1:p.Thr775=
NM_018127.6:c.2445A>C	NP_060597.4:p.Thr815=
NM_173717.1:c.2442A>C	NP_776065.1:p.Thr814=
XM_024450850.1:c.2604A>C	XP_024306618.1:p.Thr868=
XM_024450851.1:c.2526A>C	XP_024306619.1:p.Thr842=
XM_024450852.1:c.2523A>C	XP_024306620.1:p.Thr841=
XM_024450853.1:c.2520A>C	XP_024306621.1:p.Thr840=
XM_024450854.1:c.2484A>C	XP_024306622.1:p.Thr828=
XM_024450855.1:c.2403A>C	XP_024306623.1:p.Thr801=
XM_024450856.1:c.2322A>C	XP_024306624.1:p.Thr774=
XM_024450857.1:c.2322A>C	XP_024306625.1:p.Thr774=
XM_024450858.1:c.2241A>C	XP_024306626.1:p.Thr747=
XM_024450859.1:c.2238A>C	XP_024306627.1:p.Thr746=
XM_024450860.1:c.2163A>C	XP_024306628.1:p.Thr721=
XM_024450861.1:c.2163A>C	XP_024306629.1:p.Thr721=
XM_024450862.1:c.2160A>C	XP_024306630.1:p.Thr720=
NM_018127.7:c.2445A>C MANE Select	NP_060597.4:p.Thr815=
NM_001165962.2:c.2325A>C	NP_001159434.1:p.Thr775=
NM_173717.2:c.2442A>C	NP_776065.1:p.Thr814=