Canonical Allele Identifier: CA559320437

Gene: MOCS2

Linked Data

• dbSNP Id: rs1157024312
• gnomAD v2: 5-52394327-T-C
• gnomAD v3: 5-53098497-T-C
• gnomAD v4: 5-53098497-T-C
• MyVariant Identifiers: chr5:g.52394327T>C (hg19) ; chr5:g.53098497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098497T>C , CM000667.2:g.53098497T>C	GRCh38
NC_000005.9:g.52394327T>C , CM000667.1:g.52394327T>C	GRCh37
NC_000005.8:g.52430084T>C	NCBI36
NG_008435.2:g.16272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*105A>G MANE Select	ENSP00000380157.3:n.*105A>G
ENST00000450852.8:c.*592A>G MANE Plus Clinical	ENSP00000411022.3:n.*592A>G
ENST00000361377.8:c.*441A>G	ENSP00000355160.4:n.*441A>G
ENST00000396954.7:c.*105A>G	ENSP00000380157.3:n.*105A>G
ENST00000450852.7:c.*592A>G	ENSP00000411022.3:n.*592A>G
ENST00000502402.5:n.2419A>G
ENST00000508922.5:c.*512A>G	ENSP00000426274.1:n.*512A>G
ENST00000510818.6:c.*545A>G	ENSP00000424267.2:n.*545A>G
ENST00000582677.5:c.*313A>G	ENSP00000462870.1:n.*313A>G
NM_004531.4:c.*105A>G	NP_004522.1:n.*105A>G
NM_176806.3:c.*592A>G	NP_789776.1:n.*592A>G
NM_004531.5:c.*105A>G MANE Select	NP_004522.1:n.*105A>G
NM_176806.4:c.*592A>G MANE Plus Clinical	NP_789776.1:n.*592A>G