Canonical Allele Identifier: CA361672737

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1030853
• ClinVar RCV Id: RCV001332530 ; RCV001859295
• dbSNP Id: rs1754317705
• gnomAD v4: 5-149038386-C-T
• MyVariant Identifiers: chr5:g.148417949C>T (hg19) ; chr5:g.149038386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038386C>T , CM000667.2:g.149038386C>T	GRCh38
NC_000005.9:g.148417949C>T , CM000667.1:g.148417949C>T	GRCh37
NC_000005.8:g.148398142C>T	NCBI36
NG_007947.2:g.29789G>A , LRG_269:g.29789G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.800G>A
ENST00000515425.6:c.910G>A MANE Select	ENSP00000423660.1:p.Gly304Arg
ENST00000674655.1:c.172G>A	ENSP00000502840.1:p.Gly58Arg
ENST00000674983.1:c.*168G>A	ENSP00000502387.1:n.*168G>A
ENST00000675793.1:c.910G>A	ENSP00000502039.1:p.Gly304Arg
ENST00000676056.1:c.*168G>A	ENSP00000501827.1:n.*168G>A
ENST00000323829.9:c.*168G>A	ENSP00000313025.5:n.*168G>A
ENST00000503071.1:n.377G>A
ENST00000504517.5:c.310G>A	ENSP00000421779.1:p.Gly104Arg
ENST00000504690.5:c.910G>A	ENSP00000425627.1:p.Gly304Arg
ENST00000511307.5:c.*690G>A	ENSP00000421420.1:n.*690G>A
ENST00000512049.5:c.889G>A	ENSP00000421860.1:p.Gly297Arg
ENST00000513604.5:c.*168G>A	ENSP00000423111.1:n.*168G>A
ENST00000515425.5:c.910G>A	ENSP00000423660.1:p.Gly304Arg
NM_024577.3:c.910G>A , LRG_269t1:c.910G>A	NP_078853.2:p.Gly304Arg
NM_024577.4:c.910G>A MANE Select	NP_078853.2:p.Gly304Arg