Canonical Allele Identifier: CA563535421

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 907994
• ClinVar RCV Id: RCV001158215 ; RCV001158216
• dbSNP Id: rs1012900530
• gnomAD v2: 5-148366973-A-T
• gnomAD v3: 5-148987410-A-T
• gnomAD v4: 5-148987410-A-T
• MyVariant Identifiers: chr5:g.148366973A>T (hg19) ; chr5:g.148987410A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148987410A>T , CM000667.2:g.148987410A>T	GRCh38
NC_000005.9:g.148366973A>T , CM000667.1:g.148366973A>T	GRCh37
NC_000005.8:g.148347166A>T	NCBI36
NG_007947.2:g.80765T>A , LRG_269:g.80765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515425.6:c.*17301T>A MANE Select	ENSP00000423660.1:n.*17301T>A
ENST00000504690.5:c.*12+16316T>A	ENSP00000425627.1:n.*12+16316T>A
ENST00000510350.1:n.231+19471T>A
NM_024577.3:c.*17301T>A , LRG_269t1:c.*17301T>A	NP_078853.2:n.*17301T>A
NM_024577.4:c.*17301T>A MANE Select	NP_078853.2:n.*17301T>A