Canonical Allele Identifier: CA498009605

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896228G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992911G>A , CM000679.2:g.12992911G>A	GRCh38
NC_000017.10:g.12896228G>A , CM000679.1:g.12896228G>A	GRCh37
NC_000017.9:g.12836953G>A	NCBI36
NG_015808.1:g.30154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2388C>T MANE Select	ENSP00000337445.4:p.Ser796=
ENST00000338034.8:c.2388C>T	ENSP00000337445.4:p.Ser796=
ENST00000395962.6:c.2331C>T	ENSP00000379291.1:p.Ser777=
ENST00000426905.7:c.2268C>T	ENSP00000405223.3:p.Ser756=
ENST00000465825.5:n.2275C>T
ENST00000480891.5:n.2217C>T
ENST00000484122.5:n.3218C>T
ENST00000487229.6:n.1934C>T
ENST00000584650.5:c.1787C>T
NM_001165962.1:c.2268C>T	NP_001159434.1:p.Ser756=
NM_018127.6:c.2388C>T	NP_060597.4:p.Ser796=
NM_173717.1:c.2385C>T	NP_776065.1:p.Ser795=
XM_024450850.1:c.2547C>T	XP_024306618.1:p.Ser849=
XM_024450851.1:c.2469C>T	XP_024306619.1:p.Ser823=
XM_024450852.1:c.2466C>T	XP_024306620.1:p.Ser822=
XM_024450853.1:c.2463C>T	XP_024306621.1:p.Ser821=
XM_024450854.1:c.2427C>T	XP_024306622.1:p.Ser809=
XM_024450855.1:c.2346C>T	XP_024306623.1:p.Ser782=
XM_024450856.1:c.2265C>T	XP_024306624.1:p.Ser755=
XM_024450857.1:c.2265C>T	XP_024306625.1:p.Ser755=
XM_024450858.1:c.2184C>T	XP_024306626.1:p.Ser728=
XM_024450859.1:c.2181C>T	XP_024306627.1:p.Ser727=
XM_024450860.1:c.2106C>T	XP_024306628.1:p.Ser702=
XM_024450861.1:c.2106C>T	XP_024306629.1:p.Ser702=
XM_024450862.1:c.2103C>T	XP_024306630.1:p.Ser701=
NM_018127.7:c.2388C>T MANE Select	NP_060597.4:p.Ser796=
NM_001165962.2:c.2268C>T	NP_001159434.1:p.Ser756=
NM_173717.2:c.2385C>T	NP_776065.1:p.Ser795=