Canonical Allele Identifier: CA347185915

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351341T>G (hg19) ; chr2:g.71124211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124211T>G , CM000664.2:g.71124211T>G	GRCh38
NC_000002.11:g.71351341T>G , CM000664.1:g.71351341T>G	GRCh37
NC_000002.10:g.71204849T>G	NCBI36
NG_008977.1:g.11054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.373A>C MANE Select	ENSP00000244217.5:p.Ile125Leu
ENST00000244217.5:c.373A>C	ENSP00000244217.5:p.Ile125Leu
ENST00000413592.5:c.84+157A>C	ENSP00000391140.1:n.84+157A>C
ENST00000486135.1:c.88A>C	ENSP00000441569.1:p.Ile30Leu
ENST00000494660.6:c.88A>C	ENSP00000437361.1:p.Ile30Leu
NM_032601.3:c.373A>C	NP_115990.3:p.Ile125Leu
XM_005264613.2:c.216+157A>C	XP_005264670.1:n.216+157A>C
XR_939729.1:n.442A>C
XR_939729.2:n.442A>C
NM_032601.4:c.373A>C MANE Select	NP_115990.3:p.Ile125Leu