Canonical Allele Identifier: CA1546395317

Gene: MOCS2

Linked Data

• dbSNP Id: rs1740814647
• gnomAD v4: 5-53098518-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098518T>C , CM000667.2:g.53098518T>C	GRCh38
NC_000005.9:g.52394348T>C , CM000667.1:g.52394348T>C	GRCh37
NC_000005.8:g.52430105T>C	NCBI36
NG_008435.2:g.16251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*84A>G MANE Select	ENSP00000380157.3:n.*84A>G
ENST00000450852.8:c.*571A>G MANE Plus Clinical	ENSP00000411022.3:n.*571A>G
ENST00000361377.8:c.*420A>G	ENSP00000355160.4:n.*420A>G
ENST00000396954.7:c.*84A>G	ENSP00000380157.3:n.*84A>G
ENST00000450852.7:c.*571A>G	ENSP00000411022.3:n.*571A>G
ENST00000502402.5:n.2398A>G
ENST00000508922.5:c.*491A>G	ENSP00000426274.1:n.*491A>G
ENST00000510818.6:c.*524A>G	ENSP00000424267.2:n.*524A>G
ENST00000582677.5:c.*292A>G	ENSP00000462870.1:n.*292A>G
NM_004531.4:c.*84A>G	NP_004522.1:n.*84A>G
NM_176806.3:c.*571A>G	NP_789776.1:n.*571A>G
NM_004531.5:c.*84A>G MANE Select	NP_004522.1:n.*84A>G
NM_176806.4:c.*571A>G MANE Plus Clinical	NP_789776.1:n.*571A>G