Canonical Allele Identifier: CA10623238
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 351703
ClinVar RCV Id: RCV000327456 RCV000381991 RCV001785586
dbSNP Id: rs189701174
gnomAD v2: 5-148373410-C-T
gnomAD v3: 5-148993847-C-T
gnomAD v4: 5-148993847-C-T
MyVariant Identifiers: chr5:g.148373410C>T (hg19) chr5:g.148993847C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148993847C>T , CM000667.2:g.148993847C>T GRCh38
NC_000005.9:g.148373410C>T , CM000667.1:g.148373410C>T GRCh37
NC_000005.8:g.148353603C>T NCBI36
NG_007947.2:g.74328G>A , LRG_269:g.74328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10864G>A MANE Select ENSP00000423660.1:n.*10864G>A
ENST00000504690.5:c.*12+9879G>A ENSP00000425627.1:n.*12+9879G>A
ENST00000510350.1:n.231+13034G>A
NM_024577.3:c.*10864G>A , LRG_269t1:c.*10864G>A NP_078853.2:n.*10864G>A
NM_024577.4:c.*10864G>A MANE Select NP_078853.2:n.*10864G>A
Search 100 bp 5'
Search 100 bp 3'