Canonical Allele Identifier: CA359692538

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394434A>G (hg19) ; chr5:g.53098604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098604A>G , CM000667.2:g.53098604A>G	GRCh38
NC_000005.9:g.52394434A>G , CM000667.1:g.52394434A>G	GRCh37
NC_000005.8:g.52430191A>G	NCBI36
NG_008435.2:g.16165T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.565T>C MANE Select	ENSP00000380157.3:p.Ter189Gln
ENST00000450852.8:c.*485T>C MANE Plus Clinical	ENSP00000411022.3:n.*485T>C
ENST00000361377.8:c.*334T>C	ENSP00000355160.4:n.*334T>C
ENST00000396954.7:c.565T>C	ENSP00000380157.3:p.Ter189Gln
ENST00000450852.7:c.*485T>C	ENSP00000411022.3:n.*485T>C
ENST00000502402.5:n.2312T>C
ENST00000508922.5:c.*405T>C	ENSP00000426274.1:n.*405T>C
ENST00000510818.6:c.*438T>C	ENSP00000424267.2:n.*438T>C
ENST00000582677.5:c.*206T>C	ENSP00000462870.1:n.*206T>C
ENST00000584946.5:c.*357T>C	ENSP00000464663.1:n.*357T>C
NM_004531.4:c.565T>C	NP_004522.1:p.Ter189Gln
NM_176806.3:c.*485T>C	NP_789776.1:n.*485T>C
NM_004531.5:c.565T>C MANE Select	NP_004522.1:p.Ter189Gln
NM_176806.4:c.*485T>C MANE Plus Clinical	NP_789776.1:n.*485T>C