Canonical Allele Identifier: CA398222273

Gene: ELAC2

Linked Data

• dbSNP Id: rs1326956039
• gnomAD v3: 17-12992961-C-A
• gnomAD v4: 17-12992961-C-A
• MyVariant Identifiers: chr17:g.12896278C>A (hg19) ; chr17:g.12992961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992961C>A , CM000679.2:g.12992961C>A	GRCh38
NC_000017.10:g.12896278C>A , CM000679.1:g.12896278C>A	GRCh37
NC_000017.9:g.12837003C>A	NCBI36
NG_015808.1:g.30104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2338G>T MANE Select	ENSP00000337445.4:p.Glu780Ter
ENST00000338034.8:c.2338G>T	ENSP00000337445.4:p.Glu780Ter
ENST00000395962.6:c.2281G>T	ENSP00000379291.1:p.Glu761Ter
ENST00000426905.7:c.2218G>T	ENSP00000405223.3:p.Glu740Ter
ENST00000465825.5:n.2225G>T
ENST00000480891.5:n.2167G>T
ENST00000484122.5:n.3168G>T
ENST00000487229.6:n.1884G>T
ENST00000584650.5:c.1737G>T
NM_001165962.1:c.2218G>T	NP_001159434.1:p.Glu740Ter
NM_018127.6:c.2338G>T	NP_060597.4:p.Glu780Ter
NM_173717.1:c.2335G>T	NP_776065.1:p.Glu779Ter
XM_024450850.1:c.2497G>T	XP_024306618.1:p.Glu833Ter
XM_024450851.1:c.2419G>T	XP_024306619.1:p.Glu807Ter
XM_024450852.1:c.2416G>T	XP_024306620.1:p.Glu806Ter
XM_024450853.1:c.2413G>T	XP_024306621.1:p.Glu805Ter
XM_024450854.1:c.2377G>T	XP_024306622.1:p.Glu793Ter
XM_024450855.1:c.2296G>T	XP_024306623.1:p.Glu766Ter
XM_024450856.1:c.2215G>T	XP_024306624.1:p.Glu739Ter
XM_024450857.1:c.2215G>T	XP_024306625.1:p.Glu739Ter
XM_024450858.1:c.2134G>T	XP_024306626.1:p.Glu712Ter
XM_024450859.1:c.2131G>T	XP_024306627.1:p.Glu711Ter
XM_024450860.1:c.2056G>T	XP_024306628.1:p.Glu686Ter
XM_024450861.1:c.2056G>T	XP_024306629.1:p.Glu686Ter
XM_024450862.1:c.2053G>T	XP_024306630.1:p.Glu685Ter
NM_018127.7:c.2338G>T MANE Select	NP_060597.4:p.Glu780Ter
NM_001165962.2:c.2218G>T	NP_001159434.1:p.Glu740Ter
NM_173717.2:c.2335G>T	NP_776065.1:p.Glu779Ter