Canonical Allele Identifier: CA361665245

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406231T>A (hg19) ; chr5:g.149026668T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026668T>A , CM000667.2:g.149026668T>A	GRCh38
NC_000005.9:g.148406231T>A , CM000667.1:g.148406231T>A	GRCh37
NC_000005.8:g.148386424T>A	NCBI36
NG_007947.2:g.41507A>T , LRG_269:g.41507A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2853A>T
ENST00000515425.6:c.2957A>T MANE Select	ENSP00000423660.1:p.His986Leu
ENST00000675793.1:c.*2241A>T	ENSP00000502039.1:n.*2241A>T
ENST00000676056.1:c.*2467A>T	ENSP00000501827.1:n.*2467A>T
ENST00000323829.9:c.*2345A>T	ENSP00000313025.5:n.*2345A>T
ENST00000504517.5:c.2487A>T	ENSP00000421779.1:n.2487A>T
ENST00000504690.5:c.2957A>T	ENSP00000425627.1:p.His986Leu
ENST00000510779.1:c.2007A>T
ENST00000511307.5:c.*2844A>T	ENSP00000421420.1:n.*2844A>T
ENST00000512049.5:c.2936A>T	ENSP00000421860.1:p.His979Leu
ENST00000513604.5:c.*2452A>T	ENSP00000423111.1:n.*2452A>T
ENST00000515425.5:c.2957A>T	ENSP00000423660.1:p.His986Leu
NM_024577.3:c.2957A>T , LRG_269t1:c.2957A>T	NP_078853.2:p.His986Leu
NM_024577.4:c.2957A>T MANE Select	NP_078853.2:p.His986Leu