Canonical Allele Identifier: CA347189339

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351584T>A (hg19) ; chr2:g.71124454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124454T>A , CM000664.2:g.71124454T>A	GRCh38
NC_000002.11:g.71351584T>A , CM000664.1:g.71351584T>A	GRCh37
NC_000002.10:g.71205092T>A	NCBI36
NG_008977.1:g.10811A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244217.6:c.130A>T MANE Select	ENSP00000244217.5:p.Asn44Tyr
ENST00000244217.5:c.130A>T	ENSP00000244217.5:p.Asn44Tyr
ENST00000486135.1:c.-156A>T	ENSP00000441569.1:n.-156A>T
ENST00000494660.6:c.-156A>T	ENSP00000437361.1:n.-156A>T
NM_032601.3:c.130A>T	NP_115990.3:p.Asn44Tyr
XM_005264613.2:c.130A>T	XP_005264670.1:p.Asn44Tyr
XR_939729.1:n.199A>T
XR_939729.2:n.199A>T
NM_032601.4:c.130A>T MANE Select	NP_115990.3:p.Asn44Tyr