Canonical Allele Identifier: CA1076105396

Gene: MOCS2

Linked Data

• dbSNP Id: rs1740817630
• gnomAD v3: 5-53098583-G-A
• gnomAD v4: 5-53098583-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098583G>A , CM000667.2:g.53098583G>A	GRCh38
NC_000005.9:g.52394413G>A , CM000667.1:g.52394413G>A	GRCh37
NC_000005.8:g.52430170G>A	NCBI36
NG_008435.2:g.16186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*19C>T MANE Select	ENSP00000380157.3:n.*19C>T
ENST00000450852.8:c.*506C>T MANE Plus Clinical	ENSP00000411022.3:n.*506C>T
ENST00000361377.8:c.*355C>T	ENSP00000355160.4:n.*355C>T
ENST00000396954.7:c.*19C>T	ENSP00000380157.3:n.*19C>T
ENST00000450852.7:c.*506C>T	ENSP00000411022.3:n.*506C>T
ENST00000502402.5:n.2333C>T
ENST00000508922.5:c.*426C>T	ENSP00000426274.1:n.*426C>T
ENST00000510818.6:c.*459C>T	ENSP00000424267.2:n.*459C>T
ENST00000582677.5:c.*227C>T	ENSP00000462870.1:n.*227C>T
ENST00000584946.5:c.*378C>T	ENSP00000464663.1:n.*378C>T
NM_004531.4:c.*19C>T	NP_004522.1:n.*19C>T
NM_176806.3:c.*506C>T	NP_789776.1:n.*506C>T
NM_004531.5:c.*19C>T MANE Select	NP_004522.1:n.*19C>T
NM_176806.4:c.*506C>T MANE Plus Clinical	NP_789776.1:n.*506C>T