Canonical Allele Identifier: CA398218234

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12919123C>G (hg19) ; chr17:g.13015806C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13015806C>G , CM000679.2:g.13015806C>G	GRCh38
NC_000017.10:g.12919123C>G , CM000679.1:g.12919123C>G	GRCh37
NC_000017.9:g.12859848C>G	NCBI36
NG_015808.1:g.7259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.394G>C MANE Select	ENSP00000337445.4:p.Gly132Arg
ENST00000338034.8:c.394G>C	ENSP00000337445.4:p.Gly132Arg
ENST00000395962.6:c.337G>C	ENSP00000379291.1:p.Gly113Arg
ENST00000426905.7:c.394G>C	ENSP00000405223.3:p.Gly132Arg
ENST00000484122.5:n.656G>C
ENST00000578071.1:c.394G>C	ENSP00000477482.1:p.Gly132Arg
ENST00000580504.5:c.112G>C	ENSP00000463594.1:p.Gly38Arg
ENST00000581499.6:c.112G>C	ENSP00000463321.2:p.Gly38Arg
ENST00000583371.5:c.112G>C	ENSP00000464358.1:p.Gly38Arg
ENST00000609101.5:c.112G>C	ENSP00000477044.1:p.Gly38Arg
ENST00000609345.1:n.191G>C
ENST00000609757.5:c.112G>C	ENSP00000477093.1:p.Gly38Arg
NM_001165962.1:c.394G>C	NP_001159434.1:p.Gly132Arg
NM_018127.6:c.394G>C	NP_060597.4:p.Gly132Arg
NM_173717.1:c.394G>C	NP_776065.1:p.Gly132Arg
XM_024450850.1:c.394G>C	XP_024306618.1:p.Gly132Arg
XM_024450851.1:c.394G>C	XP_024306619.1:p.Gly132Arg
XM_024450852.1:c.394G>C	XP_024306620.1:p.Gly132Arg
XM_024450853.1:c.394G>C	XP_024306621.1:p.Gly132Arg
XM_024450854.1:c.394G>C	XP_024306622.1:p.Gly132Arg
XM_024450855.1:c.394G>C	XP_024306623.1:p.Gly132Arg
XM_024450856.1:c.112G>C	XP_024306624.1:p.Gly38Arg
XM_024450857.1:c.112G>C	XP_024306625.1:p.Gly38Arg
XM_024450858.1:c.112G>C	XP_024306626.1:p.Gly38Arg
XM_024450859.1:c.112G>C	XP_024306627.1:p.Gly38Arg
XM_024450860.1:c.112G>C	XP_024306628.1:p.Gly38Arg
XM_024450861.1:c.112G>C	XP_024306629.1:p.Gly38Arg
XM_024450862.1:c.112G>C	XP_024306630.1:p.Gly38Arg
NM_018127.7:c.394G>C MANE Select	NP_060597.4:p.Gly132Arg
NM_001165962.2:c.394G>C	NP_001159434.1:p.Gly132Arg
NM_173717.2:c.394G>C	NP_776065.1:p.Gly132Arg