Canonical Allele Identifier: CA498009713

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896342T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993025T>G , CM000679.2:g.12993025T>G	GRCh38
NC_000017.10:g.12896342T>G , CM000679.1:g.12896342T>G	GRCh37
NC_000017.9:g.12837067T>G	NCBI36
NG_015808.1:g.30040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2274A>C MANE Select	ENSP00000337445.4:p.Pro758=
ENST00000338034.8:c.2274A>C	ENSP00000337445.4:p.Pro758=
ENST00000395962.6:c.2217A>C	ENSP00000379291.1:p.Pro739=
ENST00000426905.7:c.2154A>C	ENSP00000405223.3:p.Pro718=
ENST00000465825.5:n.2161A>C
ENST00000480891.5:n.2103A>C
ENST00000484122.5:n.3104A>C
ENST00000487229.6:n.1820A>C
ENST00000584650.5:c.1673A>C
NM_001165962.1:c.2154A>C	NP_001159434.1:p.Pro718=
NM_018127.6:c.2274A>C	NP_060597.4:p.Pro758=
NM_173717.1:c.2271A>C	NP_776065.1:p.Pro757=
XM_024450850.1:c.2433A>C	XP_024306618.1:p.Pro811=
XM_024450851.1:c.2355A>C	XP_024306619.1:p.Pro785=
XM_024450852.1:c.2352A>C	XP_024306620.1:p.Pro784=
XM_024450853.1:c.2349A>C	XP_024306621.1:p.Pro783=
XM_024450854.1:c.2313A>C	XP_024306622.1:p.Pro771=
XM_024450855.1:c.2232A>C	XP_024306623.1:p.Pro744=
XM_024450856.1:c.2151A>C	XP_024306624.1:p.Pro717=
XM_024450857.1:c.2151A>C	XP_024306625.1:p.Pro717=
XM_024450858.1:c.2070A>C	XP_024306626.1:p.Pro690=
XM_024450859.1:c.2067A>C	XP_024306627.1:p.Pro689=
XM_024450860.1:c.1992A>C	XP_024306628.1:p.Pro664=
XM_024450861.1:c.1992A>C	XP_024306629.1:p.Pro664=
XM_024450862.1:c.1989A>C	XP_024306630.1:p.Pro663=
NM_018127.7:c.2274A>C MANE Select	NP_060597.4:p.Pro758=
NM_001165962.2:c.2154A>C	NP_001159434.1:p.Pro718=
NM_173717.2:c.2271A>C	NP_776065.1:p.Pro757=