Canonical Allele Identifier: CA361664729

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388547T>A (hg19) ; chr5:g.149008984T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008984T>A , CM000667.2:g.149008984T>A	GRCh38
NC_000005.9:g.148388547T>A , CM000667.1:g.148388547T>A	GRCh37
NC_000005.8:g.148368740T>A	NCBI36
NG_007947.2:g.59191A>T , LRG_269:g.59191A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3241A>T
ENST00000515425.6:c.3345A>T MANE Select	ENSP00000423660.1:p.Leu1115Phe
ENST00000675793.1:c.*2629A>T	ENSP00000502039.1:n.*2629A>T
ENST00000323829.9:c.*2733A>T	ENSP00000313025.5:n.*2733A>T
ENST00000504517.5:c.2875A>T	ENSP00000421779.1:n.2875A>T
ENST00000504690.5:c.3345A>T	ENSP00000425627.1:p.Leu1115Phe
ENST00000510779.1:c.2395A>T
ENST00000512049.5:c.3324A>T	ENSP00000421860.1:p.Leu1108Phe
ENST00000515229.5:n.7A>T
ENST00000515425.5:c.3345A>T	ENSP00000423660.1:p.Leu1115Phe
NM_024577.3:c.3345A>T , LRG_269t1:c.3345A>T	NP_078853.2:p.Leu1115Phe
NM_024577.4:c.3345A>T MANE Select	NP_078853.2:p.Leu1115Phe