Canonical Allele Identifier: CA447399660

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1970529
• ClinVar RCV Id: RCV002735352
• dbSNP Id: rs1561765238
• gnomAD v2: 5-148407648-C-T
• gnomAD v4: 5-149028085-C-T
• MyVariant Identifiers: chr5:g.148407648C>T (hg19) ; chr5:g.148407648_148407649delinsTA (hg19) ; chr5:g.149028085_149028086delinsTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028085C>T , CM000667.2:g.149028085C>T	GRCh38
NC_000005.9:g.148407648C>T , CM000667.1:g.148407648C>T	GRCh37
NC_000005.8:g.148387841C>T	NCBI36
NG_007947.2:g.40090G>A , LRG_269:g.40090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1543G>A
ENST00000515425.6:c.1647G>A MANE Select	ENSP00000423660.1:p.Val549=
ENST00000675793.1:c.*931G>A	ENSP00000502039.1:n.*931G>A
ENST00000676056.1:c.*1157G>A	ENSP00000501827.1:n.*1157G>A
ENST00000323829.9:c.*1035G>A	ENSP00000313025.5:n.*1035G>A
ENST00000504517.5:c.1177G>A	ENSP00000421779.1:n.1177G>A
ENST00000504690.5:c.1647G>A	ENSP00000425627.1:p.Val549=
ENST00000510779.1:c.697G>A
ENST00000511307.5:c.*1427G>A	ENSP00000421420.1:n.*1427G>A
ENST00000512049.5:c.1626G>A	ENSP00000421860.1:p.Val542=
ENST00000513604.5:c.*1035G>A	ENSP00000423111.1:n.*1035G>A
ENST00000515425.5:c.1647G>A	ENSP00000423660.1:p.Val549=
NM_024577.3:c.1647G>A , LRG_269t1:c.1647G>A	NP_078853.2:p.Val549=
NM_024577.4:c.1647G>A MANE Select	NP_078853.2:p.Val549=