Canonical Allele Identifier: CA2578307973

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098519G>A , CM000667.2:g.53098519G>A	GRCh38
NC_000005.9:g.52394349G>A , CM000667.1:g.52394349G>A	GRCh37
NC_000005.8:g.52430106G>A	NCBI36
NG_008435.2:g.16250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*83C>T MANE Select	ENSP00000380157.3:n.*83C>T
ENST00000450852.8:c.*570C>T MANE Plus Clinical	ENSP00000411022.3:n.*570C>T
ENST00000361377.8:c.*419C>T	ENSP00000355160.4:n.*419C>T
ENST00000396954.7:c.*83C>T	ENSP00000380157.3:n.*83C>T
ENST00000450852.7:c.*570C>T	ENSP00000411022.3:n.*570C>T
ENST00000502402.5:n.2397C>T
ENST00000508922.5:c.*490C>T	ENSP00000426274.1:n.*490C>T
ENST00000510818.6:c.*523C>T	ENSP00000424267.2:n.*523C>T
ENST00000582677.5:c.*291C>T	ENSP00000462870.1:n.*291C>T
NM_004531.4:c.*83C>T	NP_004522.1:n.*83C>T
NM_176806.3:c.*570C>T	NP_789776.1:n.*570C>T
NM_004531.5:c.*83C>T MANE Select	NP_004522.1:n.*83C>T
NM_176806.4:c.*570C>T MANE Plus Clinical	NP_789776.1:n.*570C>T