Canonical Allele Identifier: CA498009604

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896227T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992910T>G , CM000679.2:g.12992910T>G	GRCh38
NC_000017.10:g.12896227T>G , CM000679.1:g.12896227T>G	GRCh37
NC_000017.9:g.12836952T>G	NCBI36
NG_015808.1:g.30155A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2389A>C MANE Select	ENSP00000337445.4:p.Arg797=
ENST00000338034.8:c.2389A>C	ENSP00000337445.4:p.Arg797=
ENST00000395962.6:c.2332A>C	ENSP00000379291.1:p.Arg778=
ENST00000426905.7:c.2269A>C	ENSP00000405223.3:p.Arg757=
ENST00000465825.5:n.2276A>C
ENST00000480891.5:n.2218A>C
ENST00000484122.5:n.3219A>C
ENST00000487229.6:n.1935A>C
ENST00000584650.5:c.1788A>C
NM_001165962.1:c.2269A>C	NP_001159434.1:p.Arg757=
NM_018127.6:c.2389A>C	NP_060597.4:p.Arg797=
NM_173717.1:c.2386A>C	NP_776065.1:p.Arg796=
XM_024450850.1:c.2548A>C	XP_024306618.1:p.Arg850=
XM_024450851.1:c.2470A>C	XP_024306619.1:p.Arg824=
XM_024450852.1:c.2467A>C	XP_024306620.1:p.Arg823=
XM_024450853.1:c.2464A>C	XP_024306621.1:p.Arg822=
XM_024450854.1:c.2428A>C	XP_024306622.1:p.Arg810=
XM_024450855.1:c.2347A>C	XP_024306623.1:p.Arg783=
XM_024450856.1:c.2266A>C	XP_024306624.1:p.Arg756=
XM_024450857.1:c.2266A>C	XP_024306625.1:p.Arg756=
XM_024450858.1:c.2185A>C	XP_024306626.1:p.Arg729=
XM_024450859.1:c.2182A>C	XP_024306627.1:p.Arg728=
XM_024450860.1:c.2107A>C	XP_024306628.1:p.Arg703=
XM_024450861.1:c.2107A>C	XP_024306629.1:p.Arg703=
XM_024450862.1:c.2104A>C	XP_024306630.1:p.Arg702=
NM_018127.7:c.2389A>C MANE Select	NP_060597.4:p.Arg797=
NM_001165962.2:c.2269A>C	NP_001159434.1:p.Arg757=
NM_173717.2:c.2386A>C	NP_776065.1:p.Arg796=