Canonical Allele Identifier: CA359692628

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394472C>A (hg19) ; chr5:g.53098642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098642C>A , CM000667.2:g.53098642C>A	GRCh38
NC_000005.9:g.52394472C>A , CM000667.1:g.52394472C>A	GRCh37
NC_000005.8:g.52430229C>A	NCBI36
NG_008435.2:g.16127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.527G>T MANE Select	ENSP00000380157.3:p.Trp176Leu
ENST00000450852.8:c.*447G>T MANE Plus Clinical	ENSP00000411022.3:n.*447G>T
ENST00000361377.8:c.*296G>T	ENSP00000355160.4:n.*296G>T
ENST00000396954.7:c.527G>T	ENSP00000380157.3:p.Trp176Leu
ENST00000450852.7:c.*447G>T	ENSP00000411022.3:n.*447G>T
ENST00000502402.5:n.2274G>T
ENST00000508922.5:c.*367G>T	ENSP00000426274.1:n.*367G>T
ENST00000510818.6:c.*400G>T	ENSP00000424267.2:n.*400G>T
ENST00000582677.5:c.*168G>T	ENSP00000462870.1:n.*168G>T
ENST00000584946.5:c.*319G>T	ENSP00000464663.1:n.*319G>T
NM_004531.4:c.527G>T	NP_004522.1:p.Trp176Leu
NM_176806.3:c.*447G>T	NP_789776.1:n.*447G>T
NM_004531.5:c.527G>T MANE Select	NP_004522.1:p.Trp176Leu
NM_176806.4:c.*447G>T MANE Plus Clinical	NP_789776.1:n.*447G>T