Canonical Allele Identifier: CA3499401

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 374659
• ClinVar RCV Id: RCV000416281 ; RCV000654078 ; RCV001153291 ; RCV001153292 ; RCV001173823 ; RCV002392943
• dbSNP Id: rs144963732
• ExAC: 5:148420221 G / A
• gnomAD v2: 5-148420221-G-A
• gnomAD v3: 5-149040658-G-A
• gnomAD v4: 5-149040658-G-A
• MyVariant Identifiers: chr5:g.148420221G>A (hg19) ; chr5:g.149040658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149040658G>A , CM000667.2:g.149040658G>A	GRCh38
NC_000005.9:g.148420221G>A , CM000667.1:g.148420221G>A	GRCh37
NC_000005.8:g.148400414G>A	NCBI36
NG_007947.2:g.27517C>T , LRG_269:g.27517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.641C>T
ENST00000515425.6:c.751C>T MANE Select	ENSP00000423660.1:p.Pro251Ser
ENST00000674655.1:c.13C>T	ENSP00000502840.1:p.Pro5Ser
ENST00000674983.1:c.*9C>T	ENSP00000502387.1:n.*9C>T
ENST00000675793.1:c.751C>T	ENSP00000502039.1:p.Pro251Ser
ENST00000676056.1:c.*9C>T	ENSP00000501827.1:n.*9C>T
ENST00000676367.1:n.309C>T
ENST00000323829.9:c.*9C>T	ENSP00000313025.5:n.*9C>T
ENST00000503071.1:n.218C>T
ENST00000504517.5:c.151C>T	ENSP00000421779.1:p.Pro51Ser
ENST00000504690.5:c.751C>T	ENSP00000425627.1:p.Pro251Ser
ENST00000511307.5:c.*531C>T	ENSP00000421420.1:n.*531C>T
ENST00000512049.5:c.730C>T	ENSP00000421860.1:p.Pro244Ser
ENST00000513604.5:c.*9C>T	ENSP00000423111.1:n.*9C>T
ENST00000515425.5:c.751C>T	ENSP00000423660.1:p.Pro251Ser
NM_024577.3:c.751C>T , LRG_269t1:c.751C>T	NP_078853.2:p.Pro251Ser
NM_024577.4:c.751C>T MANE Select	NP_078853.2:p.Pro251Ser