Canonical Allele Identifier: CA347188914

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351524A>C (hg19) ; chr2:g.71124394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124394A>C , CM000664.2:g.71124394A>C	GRCh38
NC_000002.11:g.71351524A>C , CM000664.1:g.71351524A>C	GRCh37
NC_000002.10:g.71205032A>C	NCBI36
NG_008977.1:g.10871T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.190T>G MANE Select	ENSP00000244217.5:p.Phe64Val
ENST00000244217.5:c.190T>G	ENSP00000244217.5:p.Phe64Val
ENST00000413592.5:c.58T>G	ENSP00000391140.1:p.Phe20Val
ENST00000486135.1:c.-96T>G	ENSP00000441569.1:n.-96T>G
ENST00000494660.6:c.-96T>G	ENSP00000437361.1:n.-96T>G
NM_032601.3:c.190T>G	NP_115990.3:p.Phe64Val
XM_005264613.2:c.190T>G	XP_005264670.1:p.Phe64Val
XR_939729.1:n.259T>G
XR_939729.2:n.259T>G
NM_032601.4:c.190T>G MANE Select	NP_115990.3:p.Phe64Val