Canonical Allele Identifier: CA8400780

Gene: ELAC2

Linked Data

• dbSNP Id: rs200249647
• ExAC: 17:12896100 C / G
• gnomAD v2: 17-12896100-C-G
• gnomAD v3: 17-12992783-C-G
• gnomAD v4: 17-12992783-C-G
• MyVariant Identifiers: chr17:g.12896100C>G (hg19) ; chr17:g.12992783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992783C>G , CM000679.2:g.12992783C>G	GRCh38
NC_000017.10:g.12896100C>G , CM000679.1:g.12896100C>G	GRCh37
NC_000017.9:g.12836825C>G	NCBI36
NG_015808.1:g.30282G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.*35G>C MANE Select	ENSP00000337445.4:n.*35G>C
ENST00000338034.8:c.*35G>C	ENSP00000337445.4:n.*35G>C
ENST00000395962.6:c.*35G>C	ENSP00000379291.1:n.*35G>C
ENST00000426905.7:c.*35G>C	ENSP00000405223.3:n.*35G>C
ENST00000465825.5:n.2403G>C
ENST00000480891.5:n.2345G>C
ENST00000484122.5:n.3346G>C
ENST00000487229.6:n.2062G>C
ENST00000584650.5:c.1915G>C
NM_001165962.1:c.*35G>C	NP_001159434.1:n.*35G>C
NM_018127.6:c.*35G>C	NP_060597.4:n.*35G>C
NM_173717.1:c.*35G>C	NP_776065.1:n.*35G>C
XM_024450850.1:c.*35G>C	XP_024306618.1:n.*35G>C
XM_024450851.1:c.*35G>C	XP_024306619.1:n.*35G>C
XM_024450852.1:c.*35G>C	XP_024306620.1:n.*35G>C
XM_024450853.1:c.*35G>C	XP_024306621.1:n.*35G>C
XM_024450854.1:c.*35G>C	XP_024306622.1:n.*35G>C
XM_024450855.1:c.*35G>C	XP_024306623.1:n.*35G>C
XM_024450856.1:c.*35G>C	XP_024306624.1:n.*35G>C
XM_024450857.1:c.*35G>C	XP_024306625.1:n.*35G>C
XM_024450858.1:c.*35G>C	XP_024306626.1:n.*35G>C
XM_024450859.1:c.*35G>C	XP_024306627.1:n.*35G>C
XM_024450860.1:c.*35G>C	XP_024306628.1:n.*35G>C
XM_024450861.1:c.*35G>C	XP_024306629.1:n.*35G>C
XM_024450862.1:c.*35G>C	XP_024306630.1:n.*35G>C
NM_018127.7:c.*35G>C MANE Select	NP_060597.4:n.*35G>C
NM_001165962.2:c.*35G>C	NP_001159434.1:n.*35G>C
NM_173717.2:c.*35G>C	NP_776065.1:n.*35G>C