Canonical Allele Identifier: CA2673822528

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098531-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098531A>C , CM000667.2:g.53098531A>C	GRCh38
NC_000005.9:g.52394361A>C , CM000667.1:g.52394361A>C	GRCh37
NC_000005.8:g.52430118A>C	NCBI36
NG_008435.2:g.16238T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*71T>G MANE Select	ENSP00000380157.3:n.*71T>G
ENST00000450852.8:c.*558T>G MANE Plus Clinical	ENSP00000411022.3:n.*558T>G
ENST00000361377.8:c.*407T>G	ENSP00000355160.4:n.*407T>G
ENST00000396954.7:c.*71T>G	ENSP00000380157.3:n.*71T>G
ENST00000450852.7:c.*558T>G	ENSP00000411022.3:n.*558T>G
ENST00000502402.5:n.2385T>G
ENST00000508922.5:c.*478T>G	ENSP00000426274.1:n.*478T>G
ENST00000510818.6:c.*511T>G	ENSP00000424267.2:n.*511T>G
ENST00000582677.5:c.*279T>G	ENSP00000462870.1:n.*279T>G
NM_004531.4:c.*71T>G	NP_004522.1:n.*71T>G
NM_176806.3:c.*558T>G	NP_789776.1:n.*558T>G
NM_004531.5:c.*71T>G MANE Select	NP_004522.1:n.*71T>G
NM_176806.4:c.*558T>G MANE Plus Clinical	NP_789776.1:n.*558T>G