Canonical Allele Identifier: CA3499039

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1096375
• ClinVar RCV Id: RCV001417613
• dbSNP Id: rs375251955
• ExAC: 5:148407048 T / C
• gnomAD v2: 5-148407048-T-C
• gnomAD v3: 5-149027485-T-C
• gnomAD v4: 5-149027485-T-C
• MyVariant Identifiers: chr5:g.148407048T>C (hg19) ; chr5:g.149027485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027485T>C , CM000667.2:g.149027485T>C	GRCh38
NC_000005.9:g.148407048T>C , CM000667.1:g.148407048T>C	GRCh37
NC_000005.8:g.148387241T>C	NCBI36
NG_007947.2:g.40690A>G , LRG_269:g.40690A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2143A>G
ENST00000515425.6:c.2247A>G MANE Select	ENSP00000423660.1:p.Glu749=
ENST00000675793.1:c.*1531A>G	ENSP00000502039.1:n.*1531A>G
ENST00000676056.1:c.*1757A>G	ENSP00000501827.1:n.*1757A>G
ENST00000323829.9:c.*1635A>G	ENSP00000313025.5:n.*1635A>G
ENST00000504517.5:c.1777A>G	ENSP00000421779.1:n.1777A>G
ENST00000504690.5:c.2247A>G	ENSP00000425627.1:p.Glu749=
ENST00000510779.1:c.1297A>G
ENST00000511307.5:c.*2027A>G	ENSP00000421420.1:n.*2027A>G
ENST00000512049.5:c.2226A>G	ENSP00000421860.1:p.Glu742=
ENST00000513604.5:c.*1635A>G	ENSP00000423111.1:n.*1635A>G
ENST00000515425.5:c.2247A>G	ENSP00000423660.1:p.Glu749=
NM_024577.3:c.2247A>G , LRG_269t1:c.2247A>G	NP_078853.2:p.Glu749=
NM_024577.4:c.2247A>G MANE Select	NP_078853.2:p.Glu749=