Canonical Allele Identifier: CA2578307977
Gene: MOCS2 HGNC NCBI

Linked Data

gnomAD v4: 5-53098548-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098548T>C , CM000667.2:g.53098548T>C GRCh38
NC_000005.9:g.52394378T>C , CM000667.1:g.52394378T>C GRCh37
NC_000005.8:g.52430135T>C NCBI36
NG_008435.2:g.16221A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.*54A>G MANE Select ENSP00000380157.3:n.*54A>G
ENST00000450852.8:c.*541A>G MANE Plus Clinical ENSP00000411022.3:n.*541A>G
ENST00000361377.8:c.*390A>G ENSP00000355160.4:n.*390A>G
ENST00000396954.7:c.*54A>G ENSP00000380157.3:n.*54A>G
ENST00000450852.7:c.*541A>G ENSP00000411022.3:n.*541A>G
ENST00000502402.5:n.2368A>G
ENST00000508922.5:c.*461A>G ENSP00000426274.1:n.*461A>G
ENST00000510818.6:c.*494A>G ENSP00000424267.2:n.*494A>G
ENST00000582677.5:c.*262A>G ENSP00000462870.1:n.*262A>G
ENST00000584946.5:c.*413A>G ENSP00000464663.1:n.*413A>G
NM_004531.4:c.*54A>G NP_004522.1:n.*54A>G
NM_176806.3:c.*541A>G NP_789776.1:n.*541A>G
NM_004531.5:c.*54A>G MANE Select NP_004522.1:n.*54A>G
NM_176806.4:c.*541A>G MANE Plus Clinical NP_789776.1:n.*541A>G