Canonical Allele Identifier: CA361667512

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407403A>T (hg19) ; chr5:g.149027840A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027840A>T , CM000667.2:g.149027840A>T	GRCh38
NC_000005.9:g.148407403A>T , CM000667.1:g.148407403A>T	GRCh37
NC_000005.8:g.148387596A>T	NCBI36
NG_007947.2:g.40335T>A , LRG_269:g.40335T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1788T>A
ENST00000515425.6:c.1892T>A MANE Select	ENSP00000423660.1:p.Leu631Gln
ENST00000675793.1:c.*1176T>A	ENSP00000502039.1:n.*1176T>A
ENST00000676056.1:c.*1402T>A	ENSP00000501827.1:n.*1402T>A
ENST00000323829.9:c.*1280T>A	ENSP00000313025.5:n.*1280T>A
ENST00000504517.5:c.1422T>A	ENSP00000421779.1:n.1422T>A
ENST00000504690.5:c.1892T>A	ENSP00000425627.1:p.Leu631Gln
ENST00000510779.1:c.942T>A
ENST00000511307.5:c.*1672T>A	ENSP00000421420.1:n.*1672T>A
ENST00000512049.5:c.1871T>A	ENSP00000421860.1:p.Leu624Gln
ENST00000513604.5:c.*1280T>A	ENSP00000423111.1:n.*1280T>A
ENST00000515425.5:c.1892T>A	ENSP00000423660.1:p.Leu631Gln
NM_024577.3:c.1892T>A , LRG_269t1:c.1892T>A	NP_078853.2:p.Leu631Gln
NM_024577.4:c.1892T>A MANE Select	NP_078853.2:p.Leu631Gln