Canonical Allele Identifier: CA361665304

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149026696-G-A
• MyVariant Identifiers: chr5:g.148406259G>A (hg19) ; chr5:g.149026696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026696G>A , CM000667.2:g.149026696G>A	GRCh38
NC_000005.9:g.148406259G>A , CM000667.1:g.148406259G>A	GRCh37
NC_000005.8:g.148386452G>A	NCBI36
NG_007947.2:g.41479C>T , LRG_269:g.41479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2825C>T
ENST00000515425.6:c.2929C>T MANE Select	ENSP00000423660.1:p.Pro977Ser
ENST00000675793.1:c.*2213C>T	ENSP00000502039.1:n.*2213C>T
ENST00000676056.1:c.*2439C>T	ENSP00000501827.1:n.*2439C>T
ENST00000323829.9:c.*2317C>T	ENSP00000313025.5:n.*2317C>T
ENST00000504517.5:c.2459C>T	ENSP00000421779.1:n.2459C>T
ENST00000504690.5:c.2929C>T	ENSP00000425627.1:p.Pro977Ser
ENST00000510779.1:c.1979C>T
ENST00000511307.5:c.*2816C>T	ENSP00000421420.1:n.*2816C>T
ENST00000512049.5:c.2908C>T	ENSP00000421860.1:p.Pro970Ser
ENST00000513604.5:c.*2424C>T	ENSP00000423111.1:n.*2424C>T
ENST00000515425.5:c.2929C>T	ENSP00000423660.1:p.Pro977Ser
NM_024577.3:c.2929C>T , LRG_269t1:c.2929C>T	NP_078853.2:p.Pro977Ser
NM_024577.4:c.2929C>T MANE Select	NP_078853.2:p.Pro977Ser