Canonical Allele Identifier: CA128983242

Gene: SH3TC2

Linked Data

• dbSNP Id: rs113275039
• gnomAD v4: 5-149026585-G-A
• MyVariant Identifiers: chr5:g.148406148G>A (hg19) ; chr5:g.149026585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026585G>A , CM000667.2:g.149026585G>A	GRCh38
NC_000005.9:g.148406148G>A , CM000667.1:g.148406148G>A	GRCh37
NC_000005.8:g.148386341G>A	NCBI36
NG_007947.2:g.41590C>T , LRG_269:g.41590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2936C>T
ENST00000515425.6:c.3040C>T MANE Select	ENSP00000423660.1:p.Leu1014=
ENST00000675793.1:c.*2324C>T	ENSP00000502039.1:n.*2324C>T
ENST00000676056.1:c.*2550C>T	ENSP00000501827.1:n.*2550C>T
ENST00000323829.9:c.*2428C>T	ENSP00000313025.5:n.*2428C>T
ENST00000504517.5:c.2570C>T	ENSP00000421779.1:n.2570C>T
ENST00000504690.5:c.3040C>T	ENSP00000425627.1:p.Leu1014=
ENST00000510779.1:c.2090C>T
ENST00000511307.5:c.*2927C>T	ENSP00000421420.1:n.*2927C>T
ENST00000512049.5:c.3019C>T	ENSP00000421860.1:p.Leu1007=
ENST00000513604.5:c.*2535C>T	ENSP00000423111.1:n.*2535C>T
ENST00000515425.5:c.3040C>T	ENSP00000423660.1:p.Leu1014=
NM_024577.3:c.3040C>T , LRG_269t1:c.3040C>T	NP_078853.2:p.Leu1014=
NM_024577.4:c.3040C>T MANE Select	NP_078853.2:p.Leu1014=