Canonical Allele Identifier: CA12055238
Gene: SV2C HGNC NCBI

Linked Data

dbSNP Id: rs3733860
gnomAD v2: 5-75622814-C-A
gnomAD v3: 5-76326989-C-A
gnomAD v4: 5-76326989-C-A
MyVariant Identifiers: chr5:g.75622814C>A (hg19) chr5:g.76326989C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76326989C>A , CM000667.2:g.76326989C>A GRCh38
NC_000005.9:g.75622814C>A , CM000667.1:g.75622814C>A GRCh37
NC_000005.8:g.75658570C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502798.7:c.*1442C>A MANE Select ENSP00000423541.2:n.*1442C>A
ENST00000322285.7:c.2000+25444C>A ENSP00000316983.7:n.2000+25444C>A
ENST00000502798.6:c.*1442C>A ENSP00000423541.2:n.*1442C>A
NM_001297716.1:c.2000+25444C>A NP_001284645.1:n.2000+25444C>A
NM_014979.3:c.*1442C>A NP_055794.3:n.*1442C>A
XM_011543281.1:c.*1442C>A XP_011541583.1:n.*1442C>A
XM_011543282.1:c.*1442C>A XP_011541584.1:n.*1442C>A
XM_011543281.3:c.*1442C>A XP_011541583.1:n.*1442C>A
XM_011543282.3:c.*1442C>A XP_011541584.2:n.*1442C>A
XM_017009244.2:c.*1442C>A XP_016864733.1:n.*1442C>A
NM_014979.4:c.*1442C>A MANE Select NP_055794.3:n.*1442C>A
NM_001297716.2:c.2000+25444C>A NP_001284645.1:n.2000+25444C>A
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