Canonical Allele Identifier: CA288075110

Gene: ELAC2

Linked Data

• dbSNP Id: rs958202463
• gnomAD v2: 17-12896307-A-G
• gnomAD v4: 17-12992990-A-G
• MyVariant Identifiers: chr17:g.12896307A>G (hg19) ; chr17:g.12992990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992990A>G , CM000679.2:g.12992990A>G	GRCh38
NC_000017.10:g.12896307A>G , CM000679.1:g.12896307A>G	GRCh37
NC_000017.9:g.12837032A>G	NCBI36
NG_015808.1:g.30075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2309T>C MANE Select	ENSP00000337445.4:p.Leu770Pro
ENST00000338034.8:c.2309T>C	ENSP00000337445.4:p.Leu770Pro
ENST00000395962.6:c.2252T>C	ENSP00000379291.1:p.Leu751Pro
ENST00000426905.7:c.2189T>C	ENSP00000405223.3:p.Leu730Pro
ENST00000465825.5:n.2196T>C
ENST00000480891.5:n.2138T>C
ENST00000484122.5:n.3139T>C
ENST00000487229.6:n.1855T>C
ENST00000584650.5:c.1708T>C
NM_001165962.1:c.2189T>C	NP_001159434.1:p.Leu730Pro
NM_018127.6:c.2309T>C	NP_060597.4:p.Leu770Pro
NM_173717.1:c.2306T>C	NP_776065.1:p.Leu769Pro
XM_024450850.1:c.2468T>C	XP_024306618.1:p.Leu823Pro
XM_024450851.1:c.2390T>C	XP_024306619.1:p.Leu797Pro
XM_024450852.1:c.2387T>C	XP_024306620.1:p.Leu796Pro
XM_024450853.1:c.2384T>C	XP_024306621.1:p.Leu795Pro
XM_024450854.1:c.2348T>C	XP_024306622.1:p.Leu783Pro
XM_024450855.1:c.2267T>C	XP_024306623.1:p.Leu756Pro
XM_024450856.1:c.2186T>C	XP_024306624.1:p.Leu729Pro
XM_024450857.1:c.2186T>C	XP_024306625.1:p.Leu729Pro
XM_024450858.1:c.2105T>C	XP_024306626.1:p.Leu702Pro
XM_024450859.1:c.2102T>C	XP_024306627.1:p.Leu701Pro
XM_024450860.1:c.2027T>C	XP_024306628.1:p.Leu676Pro
XM_024450861.1:c.2027T>C	XP_024306629.1:p.Leu676Pro
XM_024450862.1:c.2024T>C	XP_024306630.1:p.Leu675Pro
NM_018127.7:c.2309T>C MANE Select	NP_060597.4:p.Leu770Pro
NM_001165962.2:c.2189T>C	NP_001159434.1:p.Leu730Pro
NM_173717.2:c.2306T>C	NP_776065.1:p.Leu769Pro