Canonical Allele Identifier: CA347188726

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351510A>C (hg19) ; chr2:g.71124380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124380A>C , CM000664.2:g.71124380A>C	GRCh38
NC_000002.11:g.71351510A>C , CM000664.1:g.71351510A>C	GRCh37
NC_000002.10:g.71205018A>C	NCBI36
NG_008977.1:g.10885T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.204T>G MANE Select	ENSP00000244217.5:p.Ile68Met
ENST00000244217.5:c.204T>G	ENSP00000244217.5:p.Ile68Met
ENST00000413592.5:c.72T>G	ENSP00000391140.1:p.Ile24Met
ENST00000486135.1:c.-82T>G	ENSP00000441569.1:n.-82T>G
ENST00000494660.6:c.-82T>G	ENSP00000437361.1:n.-82T>G
NM_032601.3:c.204T>G	NP_115990.3:p.Ile68Met
XM_005264613.2:c.204T>G	XP_005264670.1:p.Ile68Met
XR_939729.1:n.273T>G
XR_939729.2:n.273T>G
NM_032601.4:c.204T>G MANE Select	NP_115990.3:p.Ile68Met