Canonical Allele Identifier: CA1076105373

Gene: MOCS2

Linked Data

• dbSNP Id: rs1740815945
• gnomAD v3: 5-53098555-T-C
• gnomAD v4: 5-53098555-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098555T>C , CM000667.2:g.53098555T>C	GRCh38
NC_000005.9:g.52394385T>C , CM000667.1:g.52394385T>C	GRCh37
NC_000005.8:g.52430142T>C	NCBI36
NG_008435.2:g.16214A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*47A>G MANE Select	ENSP00000380157.3:n.*47A>G
ENST00000450852.8:c.*534A>G MANE Plus Clinical	ENSP00000411022.3:n.*534A>G
ENST00000361377.8:c.*383A>G	ENSP00000355160.4:n.*383A>G
ENST00000396954.7:c.*47A>G	ENSP00000380157.3:n.*47A>G
ENST00000450852.7:c.*534A>G	ENSP00000411022.3:n.*534A>G
ENST00000502402.5:n.2361A>G
ENST00000508922.5:c.*454A>G	ENSP00000426274.1:n.*454A>G
ENST00000510818.6:c.*487A>G	ENSP00000424267.2:n.*487A>G
ENST00000582677.5:c.*255A>G	ENSP00000462870.1:n.*255A>G
ENST00000584946.5:c.*406A>G	ENSP00000464663.1:n.*406A>G
NM_004531.4:c.*47A>G	NP_004522.1:n.*47A>G
NM_176806.3:c.*534A>G	NP_789776.1:n.*534A>G
NM_004531.5:c.*47A>G MANE Select	NP_004522.1:n.*47A>G
NM_176806.4:c.*534A>G MANE Plus Clinical	NP_789776.1:n.*534A>G