Canonical Allele Identifier: CA3263573

Gene: MOCS2

Linked Data

• dbSNP Id: rs748585938
• ExAC: 5:52394418 A / G
• gnomAD v2: 5-52394418-A-G
• gnomAD v3: 5-53098588-A-G
• gnomAD v4: 5-53098588-A-G
• MyVariant Identifiers: chr5:g.52394418A>G (hg19) ; chr5:g.53098588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098588A>G , CM000667.2:g.53098588A>G	GRCh38
NC_000005.9:g.52394418A>G , CM000667.1:g.52394418A>G	GRCh37
NC_000005.8:g.52430175A>G	NCBI36
NG_008435.2:g.16181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*14T>C MANE Select	ENSP00000380157.3:n.*14T>C
ENST00000450852.8:c.*501T>C MANE Plus Clinical	ENSP00000411022.3:n.*501T>C
ENST00000361377.8:c.*350T>C	ENSP00000355160.4:n.*350T>C
ENST00000396954.7:c.*14T>C	ENSP00000380157.3:n.*14T>C
ENST00000450852.7:c.*501T>C	ENSP00000411022.3:n.*501T>C
ENST00000502402.5:n.2328T>C
ENST00000508922.5:c.*421T>C	ENSP00000426274.1:n.*421T>C
ENST00000510818.6:c.*454T>C	ENSP00000424267.2:n.*454T>C
ENST00000582677.5:c.*222T>C	ENSP00000462870.1:n.*222T>C
ENST00000584946.5:c.*373T>C	ENSP00000464663.1:n.*373T>C
NM_004531.4:c.*14T>C	NP_004522.1:n.*14T>C
NM_176806.3:c.*501T>C	NP_789776.1:n.*501T>C
NM_004531.5:c.*14T>C MANE Select	NP_004522.1:n.*14T>C
NM_176806.4:c.*501T>C MANE Plus Clinical	NP_789776.1:n.*501T>C