Canonical Allele Identifier: CA10619608

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351923
• ClinVar RCV Id: RCV000343436 ; RCV000377152 ; RCV002429314
• dbSNP Id: rs886060199
• MyVariant Identifiers: chr5:g.148427449G>A (hg19) ; chr5:g.149047886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149047886G>A , CM000667.2:g.149047886G>A	GRCh38
NC_000005.9:g.148427449G>A , CM000667.1:g.148427449G>A	GRCh37
NC_000005.8:g.148407642G>A	NCBI36
NG_007947.2:g.20289C>T , LRG_269:g.20289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.203C>T
ENST00000515425.6:c.255C>T MANE Select	ENSP00000423660.1:p.Asp85=
ENST00000674983.1:c.255C>T	ENSP00000502387.1:p.Asp85=
ENST00000675793.1:c.255C>T	ENSP00000502039.1:p.Asp85=
ENST00000676056.1:c.255C>T	ENSP00000501827.1:p.Asp85=
ENST00000323829.9:c.255C>T	ENSP00000313025.5:p.Asp85=
ENST00000504091.1:n.291C>T
ENST00000504690.5:c.255C>T	ENSP00000425627.1:p.Asp85=
ENST00000511307.5:c.255C>T	ENSP00000421420.1:p.Asp85=
ENST00000511949.5:n.325C>T
ENST00000512049.5:c.255C>T	ENSP00000421860.1:p.Asp85=
ENST00000513604.5:c.255C>T	ENSP00000423111.1:p.Asp85=
ENST00000515425.5:c.255C>T	ENSP00000423660.1:p.Asp85=
NM_024577.3:c.255C>T , LRG_269t1:c.255C>T	NP_078853.2:p.Asp85=
NM_024577.4:c.255C>T MANE Select	NP_078853.2:p.Asp85=