Canonical Allele Identifier: CA447399434

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1192932512
• gnomAD v4: 5-149027695-C-A
• MyVariant Identifiers: chr5:g.148407258C>A (hg19) ; chr5:g.149027695C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027695C>A , CM000667.2:g.149027695C>A	GRCh38
NC_000005.9:g.148407258C>A , CM000667.1:g.148407258C>A	GRCh37
NC_000005.8:g.148387451C>A	NCBI36
NG_007947.2:g.40480G>T , LRG_269:g.40480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1933G>T
ENST00000515425.6:c.2037G>T MANE Select	ENSP00000423660.1:p.Leu679=
ENST00000675793.1:c.*1321G>T	ENSP00000502039.1:n.*1321G>T
ENST00000676056.1:c.*1547G>T	ENSP00000501827.1:n.*1547G>T
ENST00000323829.9:c.*1425G>T	ENSP00000313025.5:n.*1425G>T
ENST00000504517.5:c.1567G>T	ENSP00000421779.1:n.1567G>T
ENST00000504690.5:c.2037G>T	ENSP00000425627.1:p.Leu679=
ENST00000510779.1:c.1087G>T
ENST00000511307.5:c.*1817G>T	ENSP00000421420.1:n.*1817G>T
ENST00000512049.5:c.2016G>T	ENSP00000421860.1:p.Leu672=
ENST00000513604.5:c.*1425G>T	ENSP00000423111.1:n.*1425G>T
ENST00000515425.5:c.2037G>T	ENSP00000423660.1:p.Leu679=
NM_024577.3:c.2037G>T , LRG_269t1:c.2037G>T	NP_078853.2:p.Leu679=
NM_024577.4:c.2037G>T MANE Select	NP_078853.2:p.Leu679=