Canonical Allele Identifier: CA10623437

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351783
• ClinVar RCV Id: RCV000321902 ; RCV000376515
• dbSNP Id: rs557452648
• gnomAD v2: 5-148377592-C-G
• gnomAD v3: 5-148998029-C-G
• gnomAD v4: 5-148998029-C-G
• MyVariant Identifiers: chr5:g.148377592C>G (hg19) ; chr5:g.148998029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148998029C>G , CM000667.2:g.148998029C>G	GRCh38
NC_000005.9:g.148377592C>G , CM000667.1:g.148377592C>G	GRCh37
NC_000005.8:g.148357785C>G	NCBI36
NG_007947.2:g.70146G>C , LRG_269:g.70146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*6682G>C MANE Select	ENSP00000423660.1:n.*6682G>C
ENST00000504690.5:c.*12+5697G>C	ENSP00000425627.1:n.*12+5697G>C
ENST00000510350.1:n.231+8852G>C
NM_024577.3:c.*6682G>C , LRG_269t1:c.*6682G>C	NP_078853.2:n.*6682G>C
NM_024577.4:c.*6682G>C MANE Select	NP_078853.2:n.*6682G>C