Canonical Allele Identifier: CA361678399

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 476902
• ClinVar RCV Id: RCV000549436
• dbSNP Id: rs1198337036
• gnomAD v2: 5-148427424-C-T
• gnomAD v3: 5-149047861-C-T
• gnomAD v4: 5-149047861-C-T
• MyVariant Identifiers: chr5:g.148427424C>T (hg19) ; chr5:g.149047861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149047861C>T , CM000667.2:g.149047861C>T	GRCh38
NC_000005.9:g.148427424C>T , CM000667.1:g.148427424C>T	GRCh37
NC_000005.8:g.148407617C>T	NCBI36
NG_007947.2:g.20314G>A , LRG_269:g.20314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.227+1G>A
ENST00000515425.6:c.279+1G>A MANE Select	ENSP00000423660.1:n.279+1G>A
ENST00000674983.1:c.279+1G>A	ENSP00000502387.1:n.279+1G>A
ENST00000675793.1:c.279+1G>A	ENSP00000502039.1:n.279+1G>A
ENST00000676056.1:c.279+1G>A	ENSP00000501827.1:n.279+1G>A
ENST00000323829.9:c.279+1G>A	ENSP00000313025.5:n.279+1G>A
ENST00000504091.1:n.316G>A
ENST00000504690.5:c.279+1G>A	ENSP00000425627.1:n.279+1G>A
ENST00000511307.5:c.279+1G>A	ENSP00000421420.1:n.279+1G>A
ENST00000511949.5:n.349+1G>A
ENST00000512049.5:c.279+1G>A	ENSP00000421860.1:n.279+1G>A
ENST00000513604.5:c.279+1G>A	ENSP00000423111.1:n.279+1G>A
ENST00000515425.5:c.279+1G>A	ENSP00000423660.1:n.279+1G>A
NM_024577.3:c.279+1G>A , LRG_269t1:c.279+1G>A	NP_078853.2:n.279+1G>A
NM_024577.4:c.279+1G>A MANE Select	NP_078853.2:n.279+1G>A