Canonical Allele Identifier: CA10620597
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351659
ClinVar RCV Id: RCV000366906 RCV000391636
dbSNP Id: rs569378409
gnomAD v2: 5-148369447-A-T
gnomAD v3: 5-148989884-A-T
gnomAD v4: 5-148989884-A-T
MyVariant Identifiers: chr5:g.148369447A>T (hg19) chr5:g.148989884A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148989884A>T , CM000667.2:g.148989884A>T GRCh38
NC_000005.9:g.148369447A>T , CM000667.1:g.148369447A>T GRCh37
NC_000005.8:g.148349640A>T NCBI36
NG_007947.2:g.78291T>A , LRG_269:g.78291T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*14827T>A MANE Select ENSP00000423660.1:n.*14827T>A
ENST00000504690.5:c.*12+13842T>A ENSP00000425627.1:n.*12+13842T>A
ENST00000510350.1:n.231+16997T>A
NM_024577.3:c.*14827T>A , LRG_269t1:c.*14827T>A NP_078853.2:n.*14827T>A
NM_024577.4:c.*14827T>A MANE Select NP_078853.2:n.*14827T>A
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