Canonical Allele Identifier: CA398222101

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896187T>G (hg19) ; chr17:g.12992870T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992870T>G , CM000679.2:g.12992870T>G	GRCh38
NC_000017.10:g.12896187T>G , CM000679.1:g.12896187T>G	GRCh37
NC_000017.9:g.12836912T>G	NCBI36
NG_015808.1:g.30195A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2429A>C MANE Select	ENSP00000337445.4:p.Gln810Pro
ENST00000338034.8:c.2429A>C	ENSP00000337445.4:p.Gln810Pro
ENST00000395962.6:c.2372A>C	ENSP00000379291.1:p.Gln791Pro
ENST00000426905.7:c.2309A>C	ENSP00000405223.3:p.Gln770Pro
ENST00000465825.5:n.2316A>C
ENST00000480891.5:n.2258A>C
ENST00000484122.5:n.3259A>C
ENST00000487229.6:n.1975A>C
ENST00000584650.5:c.1828A>C
NM_001165962.1:c.2309A>C	NP_001159434.1:p.Gln770Pro
NM_018127.6:c.2429A>C	NP_060597.4:p.Gln810Pro
NM_173717.1:c.2426A>C	NP_776065.1:p.Gln809Pro
XM_024450850.1:c.2588A>C	XP_024306618.1:p.Gln863Pro
XM_024450851.1:c.2510A>C	XP_024306619.1:p.Gln837Pro
XM_024450852.1:c.2507A>C	XP_024306620.1:p.Gln836Pro
XM_024450853.1:c.2504A>C	XP_024306621.1:p.Gln835Pro
XM_024450854.1:c.2468A>C	XP_024306622.1:p.Gln823Pro
XM_024450855.1:c.2387A>C	XP_024306623.1:p.Gln796Pro
XM_024450856.1:c.2306A>C	XP_024306624.1:p.Gln769Pro
XM_024450857.1:c.2306A>C	XP_024306625.1:p.Gln769Pro
XM_024450858.1:c.2225A>C	XP_024306626.1:p.Gln742Pro
XM_024450859.1:c.2222A>C	XP_024306627.1:p.Gln741Pro
XM_024450860.1:c.2147A>C	XP_024306628.1:p.Gln716Pro
XM_024450861.1:c.2147A>C	XP_024306629.1:p.Gln716Pro
XM_024450862.1:c.2144A>C	XP_024306630.1:p.Gln715Pro
NM_018127.7:c.2429A>C MANE Select	NP_060597.4:p.Gln810Pro
NM_001165962.2:c.2309A>C	NP_001159434.1:p.Gln770Pro
NM_173717.2:c.2426A>C	NP_776065.1:p.Gln809Pro