Canonical Allele Identifier: CA498009631

Gene: ELAC2

Linked Data

• dbSNP Id: rs755369174
• gnomAD v2: 17-12896255-C-T
• gnomAD v4: 17-12992938-C-T
• MyVariant Identifiers: chr17:g.12896255C>T (hg19) ; chr17:g.12992938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992938C>T , CM000679.2:g.12992938C>T	GRCh38
NC_000017.10:g.12896255C>T , CM000679.1:g.12896255C>T	GRCh37
NC_000017.9:g.12836980C>T	NCBI36
NG_015808.1:g.30127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2361G>A MANE Select	ENSP00000337445.4:p.Leu787=
ENST00000338034.8:c.2361G>A	ENSP00000337445.4:p.Leu787=
ENST00000395962.6:c.2304G>A	ENSP00000379291.1:p.Leu768=
ENST00000426905.7:c.2241G>A	ENSP00000405223.3:p.Leu747=
ENST00000465825.5:n.2248G>A
ENST00000480891.5:n.2190G>A
ENST00000484122.5:n.3191G>A
ENST00000487229.6:n.1907G>A
ENST00000584650.5:c.1760G>A
NM_001165962.1:c.2241G>A	NP_001159434.1:p.Leu747=
NM_018127.6:c.2361G>A	NP_060597.4:p.Leu787=
NM_173717.1:c.2358G>A	NP_776065.1:p.Leu786=
XM_024450850.1:c.2520G>A	XP_024306618.1:p.Leu840=
XM_024450851.1:c.2442G>A	XP_024306619.1:p.Leu814=
XM_024450852.1:c.2439G>A	XP_024306620.1:p.Leu813=
XM_024450853.1:c.2436G>A	XP_024306621.1:p.Leu812=
XM_024450854.1:c.2400G>A	XP_024306622.1:p.Leu800=
XM_024450855.1:c.2319G>A	XP_024306623.1:p.Leu773=
XM_024450856.1:c.2238G>A	XP_024306624.1:p.Leu746=
XM_024450857.1:c.2238G>A	XP_024306625.1:p.Leu746=
XM_024450858.1:c.2157G>A	XP_024306626.1:p.Leu719=
XM_024450859.1:c.2154G>A	XP_024306627.1:p.Leu718=
XM_024450860.1:c.2079G>A	XP_024306628.1:p.Leu693=
XM_024450861.1:c.2079G>A	XP_024306629.1:p.Leu693=
XM_024450862.1:c.2076G>A	XP_024306630.1:p.Leu692=
NM_018127.7:c.2361G>A MANE Select	NP_060597.4:p.Leu787=
NM_001165962.2:c.2241G>A	NP_001159434.1:p.Leu747=
NM_173717.2:c.2358G>A	NP_776065.1:p.Leu786=