Canonical Allele Identifier: CA361664599

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388486G>A (hg19) ; chr5:g.149008923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008923G>A , CM000667.2:g.149008923G>A	GRCh38
NC_000005.9:g.148388486G>A , CM000667.1:g.148388486G>A	GRCh37
NC_000005.8:g.148368679G>A	NCBI36
NG_007947.2:g.59252C>T , LRG_269:g.59252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3302C>T
ENST00000515425.6:c.3406C>T MANE Select	ENSP00000423660.1:p.Gln1136Ter
ENST00000675793.1:c.*2690C>T	ENSP00000502039.1:n.*2690C>T
ENST00000323829.9:c.*2794C>T	ENSP00000313025.5:n.*2794C>T
ENST00000504517.5:c.2936C>T	ENSP00000421779.1:n.2936C>T
ENST00000504690.5:c.3406C>T	ENSP00000425627.1:p.Gln1136Ter
ENST00000510779.1:c.2456C>T
ENST00000512049.5:c.3385C>T	ENSP00000421860.1:p.Gln1129Ter
ENST00000515229.5:n.68C>T
ENST00000515425.5:c.3406C>T	ENSP00000423660.1:p.Gln1136Ter
NM_024577.3:c.3406C>T , LRG_269t1:c.3406C>T	NP_078853.2:p.Gln1136Ter
NM_024577.4:c.3406C>T MANE Select	NP_078853.2:p.Gln1136Ter