Canonical Allele Identifier: CA361667297

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407298G>A (hg19) ; chr5:g.149027735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027735G>A , CM000667.2:g.149027735G>A	GRCh38
NC_000005.9:g.148407298G>A , CM000667.1:g.148407298G>A	GRCh37
NC_000005.8:g.148387491G>A	NCBI36
NG_007947.2:g.40440C>T , LRG_269:g.40440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1893C>T
ENST00000515425.6:c.1997C>T MANE Select	ENSP00000423660.1:p.Pro666Leu
ENST00000675793.1:c.*1281C>T	ENSP00000502039.1:n.*1281C>T
ENST00000676056.1:c.*1507C>T	ENSP00000501827.1:n.*1507C>T
ENST00000323829.9:c.*1385C>T	ENSP00000313025.5:n.*1385C>T
ENST00000504517.5:c.1527C>T	ENSP00000421779.1:n.1527C>T
ENST00000504690.5:c.1997C>T	ENSP00000425627.1:p.Pro666Leu
ENST00000510779.1:c.1047C>T
ENST00000511307.5:c.*1777C>T	ENSP00000421420.1:n.*1777C>T
ENST00000512049.5:c.1976C>T	ENSP00000421860.1:p.Pro659Leu
ENST00000513604.5:c.*1385C>T	ENSP00000423111.1:n.*1385C>T
ENST00000515425.5:c.1997C>T	ENSP00000423660.1:p.Pro666Leu
NM_024577.3:c.1997C>T , LRG_269t1:c.1997C>T	NP_078853.2:p.Pro666Leu
NM_024577.4:c.1997C>T MANE Select	NP_078853.2:p.Pro666Leu