Canonical Allele Identifier: CA3498750

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1128134
• ClinVar RCV Id: RCV001460788 ; RCV001726560
• dbSNP Id: rs367649953
• ExAC: 5:148388475 G / A
• gnomAD v2: 5-148388475-G-A
• gnomAD v3: 5-149008912-G-A
• gnomAD v4: 5-149008912-G-A
• MyVariant Identifiers: chr5:g.148388475G>A (hg19) ; chr5:g.149008912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008912G>A , CM000667.2:g.149008912G>A	GRCh38
NC_000005.9:g.148388475G>A , CM000667.1:g.148388475G>A	GRCh37
NC_000005.8:g.148368668G>A	NCBI36
NG_007947.2:g.59263C>T , LRG_269:g.59263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3313C>T
ENST00000515425.6:c.3417C>T MANE Select	ENSP00000423660.1:p.Leu1139=
ENST00000675793.1:c.*2701C>T	ENSP00000502039.1:n.*2701C>T
ENST00000323829.9:c.*2805C>T	ENSP00000313025.5:n.*2805C>T
ENST00000504517.5:c.2947C>T	ENSP00000421779.1:n.2947C>T
ENST00000504690.5:c.3417C>T	ENSP00000425627.1:p.Leu1139=
ENST00000510779.1:c.2467C>T
ENST00000512049.5:c.3396C>T	ENSP00000421860.1:p.Leu1132=
ENST00000515229.5:n.79C>T
ENST00000515425.5:c.3417C>T	ENSP00000423660.1:p.Leu1139=
NM_024577.3:c.3417C>T , LRG_269t1:c.3417C>T	NP_078853.2:p.Leu1139=
NM_024577.4:c.3417C>T MANE Select	NP_078853.2:p.Leu1139=