Canonical Allele Identifier: CA339987

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2480
• ClinVar RCV Id: RCV000002584 ; RCV000790209
• dbSNP Id: rs80338920
• gnomAD v4: 5-149041619-T-C
• MyVariant Identifiers: chr5:g.148421182T>C (hg19) ; chr5:g.149041619T>C (hg38)
• PubMed: PMID:14574644 ; PMID:20301514

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149041619T>C , CM000667.2:g.149041619T>C	GRCh38
NC_000005.9:g.148421182T>C , CM000667.1:g.148421182T>C	GRCh37
NC_000005.8:g.148401375T>C	NCBI36
NG_007947.2:g.26556A>G , LRG_269:g.26556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.478-2A>G
ENST00000515425.6:c.530-2A>G MANE Select	ENSP00000423660.1:n.530-2A>G
ENST00000674983.1:c.530-2A>G	ENSP00000502387.1:n.530-2A>G
ENST00000675793.1:c.530-2A>G	ENSP00000502039.1:n.530-2A>G
ENST00000676056.1:c.530-2A>G	ENSP00000501827.1:n.530-2A>G
ENST00000676367.1:n.146-2A>G
ENST00000323829.9:c.530-2A>G	ENSP00000313025.5:n.530-2A>G
ENST00000503071.1:n.55-2A>G
ENST00000504690.5:c.530-2A>G	ENSP00000425627.1:n.530-2A>G
ENST00000511307.5:c.*310-2A>G	ENSP00000421420.1:n.*310-2A>G
ENST00000512049.5:c.509-2A>G	ENSP00000421860.1:n.509-2A>G
ENST00000513604.5:c.530-2A>G	ENSP00000423111.1:n.530-2A>G
ENST00000515425.5:c.530-2A>G	ENSP00000423660.1:n.530-2A>G
NM_024577.3:c.530-2A>G , LRG_269t1:c.530-2A>G	NP_078853.2:n.530-2A>G
NM_024577.4:c.530-2A>G MANE Select	NP_078853.2:n.530-2A>G