Canonical Allele Identifier: CA498012314

Gene: ELAC2

Linked Data

• dbSNP Id: rs11545302
• gnomAD v2: 17-12899963-T-G
• MyVariant Identifiers: chr17:g.12899963T>G (hg19) ; chr17:g.12996646T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12996646T>G , CM000679.2:g.12996646T>G	GRCh38
NC_000017.10:g.12899963T>G , CM000679.1:g.12899963T>G	GRCh37
NC_000017.9:g.12840688T>G	NCBI36
NG_015808.1:g.26419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1560A>C MANE Select	ENSP00000337445.4:p.Thr520=
ENST00000338034.8:c.1560A>C	ENSP00000337445.4:p.Thr520=
ENST00000395962.6:c.1503A>C	ENSP00000379291.1:p.Thr501=
ENST00000426905.7:c.1440A>C	ENSP00000405223.3:p.Thr480=
ENST00000465825.5:n.879A>C
ENST00000480891.5:n.1389A>C
ENST00000484122.5:n.1822A>C
ENST00000487229.6:n.1106A>C
ENST00000491478.5:n.137A>C
ENST00000492559.5:n.367A>C
ENST00000584650.5:c.959A>C
NM_001165962.1:c.1440A>C	NP_001159434.1:p.Thr480=
NM_018127.6:c.1560A>C	NP_060597.4:p.Thr520=
NM_173717.1:c.1557A>C	NP_776065.1:p.Thr519=
XM_024450850.1:c.1641A>C	XP_024306618.1:p.Thr547=
XM_024450851.1:c.1641A>C	XP_024306619.1:p.Thr547=
XM_024450852.1:c.1560A>C	XP_024306620.1:p.Thr520=
XM_024450853.1:c.1557A>C	XP_024306621.1:p.Thr519=
XM_024450854.1:c.1521A>C	XP_024306622.1:p.Thr507=
XM_024450855.1:c.1440A>C	XP_024306623.1:p.Thr480=
XM_024450856.1:c.1359A>C	XP_024306624.1:p.Thr453=
XM_024450857.1:c.1359A>C	XP_024306625.1:p.Thr453=
XM_024450858.1:c.1278A>C	XP_024306626.1:p.Thr426=
XM_024450859.1:c.1275A>C	XP_024306627.1:p.Thr425=
XM_024450860.1:c.1278A>C	XP_024306628.1:p.Thr426=
XM_024450861.1:c.1278A>C	XP_024306629.1:p.Thr426=
XM_024450862.1:c.1275A>C	XP_024306630.1:p.Thr425=
NM_018127.7:c.1560A>C MANE Select	NP_060597.4:p.Thr520=
NM_001165962.2:c.1440A>C	NP_001159434.1:p.Thr480=
NM_173717.2:c.1557A>C	NP_776065.1:p.Thr519=