Canonical Allele Identifier: CA2578307980

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098568A>G , CM000667.2:g.53098568A>G	GRCh38
NC_000005.9:g.52394398A>G , CM000667.1:g.52394398A>G	GRCh37
NC_000005.8:g.52430155A>G	NCBI36
NG_008435.2:g.16201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*34T>C MANE Select	ENSP00000380157.3:n.*34T>C
ENST00000450852.8:c.*521T>C MANE Plus Clinical	ENSP00000411022.3:n.*521T>C
ENST00000361377.8:c.*370T>C	ENSP00000355160.4:n.*370T>C
ENST00000396954.7:c.*34T>C	ENSP00000380157.3:n.*34T>C
ENST00000450852.7:c.*521T>C	ENSP00000411022.3:n.*521T>C
ENST00000502402.5:n.2348T>C
ENST00000508922.5:c.*441T>C	ENSP00000426274.1:n.*441T>C
ENST00000510818.6:c.*474T>C	ENSP00000424267.2:n.*474T>C
ENST00000582677.5:c.*242T>C	ENSP00000462870.1:n.*242T>C
ENST00000584946.5:c.*393T>C	ENSP00000464663.1:n.*393T>C
NM_004531.4:c.*34T>C	NP_004522.1:n.*34T>C
NM_176806.3:c.*521T>C	NP_789776.1:n.*521T>C
NM_004531.5:c.*34T>C MANE Select	NP_004522.1:n.*34T>C
NM_176806.4:c.*521T>C MANE Plus Clinical	NP_789776.1:n.*521T>C