Canonical Allele Identifier: CA361667384

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407341C>A (hg19) ; chr5:g.149027778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027778C>A , CM000667.2:g.149027778C>A	GRCh38
NC_000005.9:g.148407341C>A , CM000667.1:g.148407341C>A	GRCh37
NC_000005.8:g.148387534C>A	NCBI36
NG_007947.2:g.40397G>T , LRG_269:g.40397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1850G>T
ENST00000515425.6:c.1954G>T MANE Select	ENSP00000423660.1:p.Val652Phe
ENST00000675793.1:c.*1238G>T	ENSP00000502039.1:n.*1238G>T
ENST00000676056.1:c.*1464G>T	ENSP00000501827.1:n.*1464G>T
ENST00000323829.9:c.*1342G>T	ENSP00000313025.5:n.*1342G>T
ENST00000504517.5:c.1484G>T	ENSP00000421779.1:n.1484G>T
ENST00000504690.5:c.1954G>T	ENSP00000425627.1:p.Val652Phe
ENST00000510779.1:c.1004G>T
ENST00000511307.5:c.*1734G>T	ENSP00000421420.1:n.*1734G>T
ENST00000512049.5:c.1933G>T	ENSP00000421860.1:p.Val645Phe
ENST00000513604.5:c.*1342G>T	ENSP00000423111.1:n.*1342G>T
ENST00000515425.5:c.1954G>T	ENSP00000423660.1:p.Val652Phe
NM_024577.3:c.1954G>T , LRG_269t1:c.1954G>T	NP_078853.2:p.Val652Phe
NM_024577.4:c.1954G>T MANE Select	NP_078853.2:p.Val652Phe