Canonical Allele Identifier: CA1546395397

Gene: MOCS2

Linked Data

• dbSNP Id: rs1740822603

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098676C>A , CM000667.2:g.53098676C>A	GRCh38
NC_000005.9:g.52394506C>A , CM000667.1:g.52394506C>A	GRCh37
NC_000005.8:g.52430263C>A	NCBI36
NG_008435.2:g.16093G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.502-9G>T MANE Select	ENSP00000380157.3:n.502-9G>T
ENST00000450852.8:c.*422-9G>T MANE Plus Clinical	ENSP00000411022.3:n.*422-9G>T
ENST00000361377.8:c.*271-9G>T	ENSP00000355160.4:n.*271-9G>T
ENST00000396954.7:c.502-9G>T	ENSP00000380157.3:n.502-9G>T
ENST00000450852.7:c.*422-9G>T	ENSP00000411022.3:n.*422-9G>T
ENST00000502402.5:n.2249-9G>T
ENST00000508922.5:c.*333G>T	ENSP00000426274.1:n.*333G>T
ENST00000510818.6:c.*375-9G>T	ENSP00000424267.2:n.*375-9G>T
ENST00000582677.5:c.*143-9G>T	ENSP00000462870.1:n.*143-9G>T
ENST00000584946.5:c.*294-9G>T	ENSP00000464663.1:n.*294-9G>T
NM_004531.4:c.502-9G>T	NP_004522.1:n.502-9G>T
NM_176806.3:c.*422-9G>T	NP_789776.1:n.*422-9G>T
NM_004531.5:c.502-9G>T MANE Select	NP_004522.1:n.502-9G>T
NM_176806.4:c.*422-9G>T MANE Plus Clinical	NP_789776.1:n.*422-9G>T