Canonical Allele Identifier: CA1702659

Gene: MCEE

Linked Data

• dbSNP Id: rs550947127
• ExAC: 2:71351700 C / T
• gnomAD v2: 2-71351700-C-T
• gnomAD v3: 2-71124570-C-T
• gnomAD v4: 2-71124570-C-T
• MyVariant Identifiers: chr2:g.71351700C>T (hg19) ; chr2:g.71351700_71351703delinsTCTT (hg19) ; chr2:g.71124570C>T (hg38) ; chr2:g.71124570_71124573delinsTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124570C>T , CM000664.2:g.71124570C>T	GRCh38
NC_000002.11:g.71351700C>T , CM000664.1:g.71351700C>T	GRCh37
NC_000002.10:g.71205208C>T	NCBI36
NG_008977.1:g.10695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.41-27G>A MANE Select	ENSP00000244217.5:n.41-27G>A
ENST00000244217.5:c.41-27G>A	ENSP00000244217.5:n.41-27G>A
ENST00000486135.1:c.-245-27G>A	ENSP00000441569.1:n.-245-27G>A
ENST00000494660.6:c.-245-27G>A	ENSP00000437361.1:n.-245-27G>A
NM_032601.3:c.41-27G>A	NP_115990.3:n.41-27G>A
XM_005264613.2:c.41-27G>A	XP_005264670.1:n.41-27G>A
XR_939729.1:n.110-27G>A
XR_939729.2:n.110-27G>A
NM_032601.4:c.41-27G>A MANE Select	NP_115990.3:n.41-27G>A