Canonical Allele Identifier: CA118883904

Gene: MOCS2

Linked Data

• dbSNP Id: rs183979711
• gnomAD v3: 5-53098436-A-T
• gnomAD v4: 5-53098436-A-T
• MyVariant Identifiers: chr5:g.52394266A>T (hg19) ; chr5:g.53098436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098436A>T , CM000667.2:g.53098436A>T	GRCh38
NC_000005.9:g.52394266A>T , CM000667.1:g.52394266A>T	GRCh37
NC_000005.8:g.52430023A>T	NCBI36
NG_008435.2:g.16333T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*166T>A MANE Select	ENSP00000380157.3:n.*166T>A
ENST00000450852.8:c.*653T>A MANE Plus Clinical	ENSP00000411022.3:n.*653T>A
ENST00000361377.8:c.*502T>A	ENSP00000355160.4:n.*502T>A
ENST00000396954.7:c.*166T>A	ENSP00000380157.3:n.*166T>A
ENST00000450852.7:c.*653T>A	ENSP00000411022.3:n.*653T>A
ENST00000502402.5:n.2480T>A
ENST00000508922.5:c.*573T>A	ENSP00000426274.1:n.*573T>A
ENST00000510818.6:c.*606T>A	ENSP00000424267.2:n.*606T>A
ENST00000582677.5:c.*374T>A	ENSP00000462870.1:n.*374T>A
NM_004531.4:c.*166T>A	NP_004522.1:n.*166T>A
NM_176806.3:c.*653T>A	NP_789776.1:n.*653T>A
NM_004531.5:c.*166T>A MANE Select	NP_004522.1:n.*166T>A
NM_176806.4:c.*653T>A MANE Plus Clinical	NP_789776.1:n.*653T>A