Canonical Allele Identifier: CA347190092

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124524-T-A
• MyVariant Identifiers: chr2:g.71351654T>A (hg19) ; chr2:g.71124524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124524T>A , CM000664.2:g.71124524T>A	GRCh38
NC_000002.11:g.71351654T>A , CM000664.1:g.71351654T>A	GRCh37
NC_000002.10:g.71205162T>A	NCBI36
NG_008977.1:g.10741A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.60A>T MANE Select	ENSP00000244217.5:p.Gln20His
ENST00000244217.5:c.60A>T	ENSP00000244217.5:p.Gln20His
ENST00000486135.1:c.-226A>T	ENSP00000441569.1:n.-226A>T
ENST00000494660.6:c.-226A>T	ENSP00000437361.1:n.-226A>T
NM_032601.3:c.60A>T	NP_115990.3:p.Gln20His
XM_005264613.2:c.60A>T	XP_005264670.1:p.Gln20His
XR_939729.1:n.129A>T
XR_939729.2:n.129A>T
NM_032601.4:c.60A>T MANE Select	NP_115990.3:p.Gln20His