Canonical Allele Identifier: CA2673822550

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098585-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098585T>G , CM000667.2:g.53098585T>G	GRCh38
NC_000005.9:g.52394415T>G , CM000667.1:g.52394415T>G	GRCh37
NC_000005.8:g.52430172T>G	NCBI36
NG_008435.2:g.16184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*17A>C MANE Select	ENSP00000380157.3:n.*17A>C
ENST00000450852.8:c.*504A>C MANE Plus Clinical	ENSP00000411022.3:n.*504A>C
ENST00000361377.8:c.*353A>C	ENSP00000355160.4:n.*353A>C
ENST00000396954.7:c.*17A>C	ENSP00000380157.3:n.*17A>C
ENST00000450852.7:c.*504A>C	ENSP00000411022.3:n.*504A>C
ENST00000502402.5:n.2331A>C
ENST00000508922.5:c.*424A>C	ENSP00000426274.1:n.*424A>C
ENST00000510818.6:c.*457A>C	ENSP00000424267.2:n.*457A>C
ENST00000582677.5:c.*225A>C	ENSP00000462870.1:n.*225A>C
ENST00000584946.5:c.*376A>C	ENSP00000464663.1:n.*376A>C
NM_004531.4:c.*17A>C	NP_004522.1:n.*17A>C
NM_176806.3:c.*504A>C	NP_789776.1:n.*504A>C
NM_004531.5:c.*17A>C MANE Select	NP_004522.1:n.*17A>C
NM_176806.4:c.*504A>C MANE Plus Clinical	NP_789776.1:n.*504A>C