Canonical Allele Identifier: CA2578307978

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098561T>A , CM000667.2:g.53098561T>A	GRCh38
NC_000005.9:g.52394391T>A , CM000667.1:g.52394391T>A	GRCh37
NC_000005.8:g.52430148T>A	NCBI36
NG_008435.2:g.16208A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*41A>T MANE Select	ENSP00000380157.3:n.*41A>T
ENST00000450852.8:c.*528A>T MANE Plus Clinical	ENSP00000411022.3:n.*528A>T
ENST00000361377.8:c.*377A>T	ENSP00000355160.4:n.*377A>T
ENST00000396954.7:c.*41A>T	ENSP00000380157.3:n.*41A>T
ENST00000450852.7:c.*528A>T	ENSP00000411022.3:n.*528A>T
ENST00000502402.5:n.2355A>T
ENST00000508922.5:c.*448A>T	ENSP00000426274.1:n.*448A>T
ENST00000510818.6:c.*481A>T	ENSP00000424267.2:n.*481A>T
ENST00000582677.5:c.*249A>T	ENSP00000462870.1:n.*249A>T
ENST00000584946.5:c.*400A>T	ENSP00000464663.1:n.*400A>T
NM_004531.4:c.*41A>T	NP_004522.1:n.*41A>T
NM_176806.3:c.*528A>T	NP_789776.1:n.*528A>T
NM_004531.5:c.*41A>T MANE Select	NP_004522.1:n.*41A>T
NM_176806.4:c.*528A>T MANE Plus Clinical	NP_789776.1:n.*528A>T