Canonical Allele Identifier: CA3499549

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351922
• ClinVar RCV Id: RCV000286201 ; RCV000559399 ; RCV000605956 ; RCV001173217 ; RCV001094987 ; RCV002436216
• dbSNP Id: rs201937366
• ExAC: 5:148424206 G / A
• gnomAD v2: 5-148424206-G-A
• gnomAD v3: 5-149044643-G-A
• gnomAD v4: 5-149044643-G-A
• COSMIC: COSM3211408
• MyVariant Identifiers: chr5:g.148424206G>A (hg19) ; chr5:g.149044643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149044643G>A , CM000667.2:g.149044643G>A	GRCh38
NC_000005.9:g.148424206G>A , CM000667.1:g.148424206G>A	GRCh37
NC_000005.8:g.148404399G>A	NCBI36
NG_007947.2:g.23532C>T , LRG_269:g.23532C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.228-5C>T
ENST00000515425.6:c.280-5C>T MANE Select	ENSP00000423660.1:n.280-5C>T
ENST00000674983.1:c.280-5C>T	ENSP00000502387.1:n.280-5C>T
ENST00000675793.1:c.280-5C>T	ENSP00000502039.1:n.280-5C>T
ENST00000676056.1:c.280-5C>T	ENSP00000501827.1:n.280-5C>T
ENST00000323829.9:c.280-5C>T	ENSP00000313025.5:n.280-5C>T
ENST00000504091.1:n.3534C>T
ENST00000504690.5:c.280-5C>T	ENSP00000425627.1:n.280-5C>T
ENST00000511307.5:c.*60-5C>T	ENSP00000421420.1:n.*60-5C>T
ENST00000511949.5:n.350-5C>T
ENST00000512049.5:c.280-5C>T	ENSP00000421860.1:n.280-5C>T
ENST00000513604.5:c.280-5C>T	ENSP00000423111.1:n.280-5C>T
ENST00000515425.5:c.280-5C>T	ENSP00000423660.1:n.280-5C>T
NM_024577.3:c.280-5C>T , LRG_269t1:c.280-5C>T	NP_078853.2:n.280-5C>T
NM_024577.4:c.280-5C>T MANE Select	NP_078853.2:n.280-5C>T