Canonical Allele Identifier: CA347189321

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124451-G-C
• MyVariant Identifiers: chr2:g.71351581G>C (hg19) ; chr2:g.71124451G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124451G>C , CM000664.2:g.71124451G>C	GRCh38
NC_000002.11:g.71351581G>C , CM000664.1:g.71351581G>C	GRCh37
NC_000002.10:g.71205089G>C	NCBI36
NG_008977.1:g.10814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.133C>G MANE Select	ENSP00000244217.5:p.Leu45Val
ENST00000244217.5:c.133C>G	ENSP00000244217.5:p.Leu45Val
ENST00000413592.5:c.1C>G	ENSP00000391140.1:p.Leu1Val
ENST00000486135.1:c.-153C>G	ENSP00000441569.1:n.-153C>G
ENST00000494660.6:c.-153C>G	ENSP00000437361.1:n.-153C>G
NM_032601.3:c.133C>G	NP_115990.3:p.Leu45Val
XM_005264613.2:c.133C>G	XP_005264670.1:p.Leu45Val
XR_939729.1:n.202C>G
XR_939729.2:n.202C>G
NM_032601.4:c.133C>G MANE Select	NP_115990.3:p.Leu45Val