Canonical Allele Identifier: CA559320447

Gene: MOCS2

Linked Data

• gnomAD v2: 5-52394500-A-ATATGGGCACCTTGGCTTTT
• gnomAD v4: 5-53098670-A-ATATGGGCACCTTGGCTTTT
• MyVariant Identifiers: chr5:g.52394500_52394501insTATGGGCACCTTGGCTTTT (hg19) ; chr5:g.53098670_53098671insTATGGGCACCTTGGCTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098670_53098671insTATGGGCACCTTGGCTTTT , CM000667.2:g.53098670_53098671insTATGGGCACCTTGGCTTTT	GRCh38
NC_000005.9:g.52394500_52394501insTATGGGCACCTTGGCTTTT , CM000667.1:g.52394500_52394501insTATGGGCACCTTGGCTTTT	GRCh37
NC_000005.8:g.52430257_52430258insTATGGGCACCTTGGCTTTT	NCBI36
NG_008435.2:g.16098_16099insAAAAGCCAAGGTGCCCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-4_502-3insAAAAGCCAAGGTGCCCATA MANE Select	ENSP00000380157.3:n.502-4_502-3insAAAAGCCAAGGTGCCCATA
ENST00000450852.8:c.*422-4_*422-3insAAAAGCCAAGGTGCCCATA MANE Plus Clinical	ENSP00000411022.3:n.*422-4_*422-3insAAAAGCCAAGGTGCCCATA
ENST00000361377.8:c.*271-4_*271-3insAAAAGCCAAGGTGCCCATA	ENSP00000355160.4:n.*271-4_*271-3insAAAAGCCAAGGTGCCCATA
ENST00000396954.7:c.502-4_502-3insAAAAGCCAAGGTGCCCATA	ENSP00000380157.3:n.502-4_502-3insAAAAGCCAAGGTGCCCATA
ENST00000450852.7:c.*422-4_*422-3insAAAAGCCAAGGTGCCCATA	ENSP00000411022.3:n.*422-4_*422-3insAAAAGCCAAGGTGCCCATA
ENST00000502402.5:n.2249-4_2249-3insAAAAGCCAAGGTGCCCATA
ENST00000508922.5:c.*338_*339insAAAAGCCAAGGTGCCCATA	ENSP00000426274.1:n.*338_*339insAAAAGCCAAGGTGCCCATA
ENST00000510818.6:c.*375-4_*375-3insAAAAGCCAAGGTGCCCATA	ENSP00000424267.2:n.*375-4_*375-3insAAAAGCCAAGGTGCCCATA
ENST00000582677.5:c.*143-4_*143-3insAAAAGCCAAGGTGCCCATA	ENSP00000462870.1:n.*143-4_*143-3insAAAAGCCAAGGTGCCCATA
ENST00000584946.5:c.*294-4_*294-3insAAAAGCCAAGGTGCCCATA	ENSP00000464663.1:n.*294-4_*294-3insAAAAGCCAAGGTGCCCATA
NM_004531.4:c.502-4_502-3insAAAAGCCAAGGTGCCCATA	NP_004522.1:n.502-4_502-3insAAAAGCCAAGGTGCCCATA
NM_176806.3:c.*422-4_*422-3insAAAAGCCAAGGTGCCCATA	NP_789776.1:n.*422-4_*422-3insAAAAGCCAAGGTGCCCATA
NM_004531.5:c.502-4_502-3insAAAAGCCAAGGTGCCCATA MANE Select	NP_004522.1:n.502-4_502-3insAAAAGCCAAGGTGCCCATA
NM_176806.4:c.*422-4_*422-3insAAAAGCCAAGGTGCCCATA MANE Plus Clinical	NP_789776.1:n.*422-4_*422-3insAAAAGCCAAGGTGCCCATA