Canonical Allele Identifier: CA10623409

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351761
• ClinVar RCV Id: RCV000265443 ; RCV000327587 ; RCV001672653
• dbSNP Id: rs17109205
• gnomAD v2: 5-148376163-T-G
• gnomAD v3: 5-148996600-T-G
• gnomAD v4: 5-148996600-T-G
• MyVariant Identifiers: chr5:g.148376163T>G (hg19) ; chr5:g.148996600T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148996600T>G , CM000667.2:g.148996600T>G	GRCh38
NC_000005.9:g.148376163T>G , CM000667.1:g.148376163T>G	GRCh37
NC_000005.8:g.148356356T>G	NCBI36
NG_007947.2:g.71575A>C , LRG_269:g.71575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*8111A>C MANE Select	ENSP00000423660.1:n.*8111A>C
ENST00000504690.5:c.*12+7126A>C	ENSP00000425627.1:n.*12+7126A>C
ENST00000510350.1:n.231+10281A>C
NM_024577.3:c.*8111A>C , LRG_269t1:c.*8111A>C	NP_078853.2:n.*8111A>C
NM_024577.4:c.*8111A>C MANE Select	NP_078853.2:n.*8111A>C