Canonical Allele Identifier: CA300058751

Gene: ME2

Linked Data

• dbSNP Id: rs1042763996
• gnomAD v2: 18-48464225-G-C
• gnomAD v3: 18-50937855-G-C
• gnomAD v4: 18-50937855-G-C
• MyVariant Identifiers: chr18:g.48464225G>C (hg19) ; chr18:g.50937855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50937855G>C , CM000680.2:g.50937855G>C	GRCh38
NC_000018.9:g.48464225G>C , CM000680.1:g.48464225G>C	GRCh37
NC_000018.8:g.46718223G>C	NCBI36
NG_016198.1:g.63794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321341.11:c.1418-1715G>C MANE Select	ENSP00000321070.5:n.1418-1715G>C
ENST00000585680.2:c.1108-2433G>C	ENSP00000491793.1:n.1108-2433G>C
ENST00000638410.1:c.1418-1715G>C	ENSP00000492272.1:n.1418-1715G>C
ENST00000638937.1:c.1418-1715G>C	ENSP00000492393.1:n.1418-1715G>C
ENST00000639115.1:c.*940-1715G>C	ENSP00000492733.1:n.*940-1715G>C
ENST00000639255.1:c.1256-1715G>C	ENSP00000492085.1:n.1256-1715G>C
ENST00000639398.1:c.*778-1715G>C	ENSP00000492309.1:n.*778-1715G>C
ENST00000639612.1:c.1176-2433G>C
ENST00000639665.1:c.1307-2433G>C	ENSP00000491520.1:n.1307-2433G>C
ENST00000639850.1:c.1304-1715G>C	ENSP00000491152.1:n.1304-1715G>C
ENST00000640530.1:c.*778-1715G>C	ENSP00000491724.1:n.*778-1715G>C
ENST00000640965.1:c.1307-1715G>C	ENSP00000491954.1:n.1307-1715G>C
ENST00000640967.1:c.1418-2433G>C	ENSP00000492067.1:n.1418-2433G>C
ENST00000321341.9:c.1418-1715G>C	ENSP00000321070.5:n.1418-1715G>C
ENST00000382927.3:c.1417+5495G>C	ENSP00000372384.2:n.1417+5495G>C
ENST00000585680.1:n.143-2433G>C
NM_001168335.1:c.1417+5495G>C	NP_001161807.1:n.1417+5495G>C
NM_002396.4:c.1418-1715G>C	NP_002387.1:n.1418-1715G>C
XR_935223.1:n.2135-2433G>C
XR_935223.2:n.2037-2433G>C
NM_002396.5:c.1418-1715G>C MANE Select	NP_002387.1:n.1418-1715G>C
NM_001168335.2:c.1417+5495G>C	NP_001161807.1:n.1417+5495G>C
NR_174094.1:n.1621-2433G>C