Canonical Allele Identifier: CA398222000

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992822-T-G
• MyVariant Identifiers: chr17:g.12896139T>G (hg19) ; chr17:g.12992822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992822T>G , CM000679.2:g.12992822T>G	GRCh38
NC_000017.10:g.12896139T>G , CM000679.1:g.12896139T>G	GRCh37
NC_000017.9:g.12836864T>G	NCBI36
NG_015808.1:g.30243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2477A>C MANE Select	ENSP00000337445.4:p.Gln826Pro
ENST00000338034.8:c.2477A>C	ENSP00000337445.4:p.Gln826Pro
ENST00000395962.6:c.2420A>C	ENSP00000379291.1:p.Gln807Pro
ENST00000426905.7:c.2357A>C	ENSP00000405223.3:p.Gln786Pro
ENST00000465825.5:n.2364A>C
ENST00000480891.5:n.2306A>C
ENST00000484122.5:n.3307A>C
ENST00000487229.6:n.2023A>C
ENST00000584650.5:c.1876A>C
NM_001165962.1:c.2357A>C	NP_001159434.1:p.Gln786Pro
NM_018127.6:c.2477A>C	NP_060597.4:p.Gln826Pro
NM_173717.1:c.2474A>C	NP_776065.1:p.Gln825Pro
XM_024450850.1:c.2636A>C	XP_024306618.1:p.Gln879Pro
XM_024450851.1:c.2558A>C	XP_024306619.1:p.Gln853Pro
XM_024450852.1:c.2555A>C	XP_024306620.1:p.Gln852Pro
XM_024450853.1:c.2552A>C	XP_024306621.1:p.Gln851Pro
XM_024450854.1:c.2516A>C	XP_024306622.1:p.Gln839Pro
XM_024450855.1:c.2435A>C	XP_024306623.1:p.Gln812Pro
XM_024450856.1:c.2354A>C	XP_024306624.1:p.Gln785Pro
XM_024450857.1:c.2354A>C	XP_024306625.1:p.Gln785Pro
XM_024450858.1:c.2273A>C	XP_024306626.1:p.Gln758Pro
XM_024450859.1:c.2270A>C	XP_024306627.1:p.Gln757Pro
XM_024450860.1:c.2195A>C	XP_024306628.1:p.Gln732Pro
XM_024450861.1:c.2195A>C	XP_024306629.1:p.Gln732Pro
XM_024450862.1:c.2192A>C	XP_024306630.1:p.Gln731Pro
NM_018127.7:c.2477A>C MANE Select	NP_060597.4:p.Gln826Pro
NM_001165962.2:c.2357A>C	NP_001159434.1:p.Gln786Pro
NM_173717.2:c.2474A>C	NP_776065.1:p.Gln825Pro