Canonical Allele Identifier: CA3499623

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149052171T>C , CM000667.2:g.149052171T>C	GRCh38
NC_000005.9:g.148431734T>C , CM000667.1:g.148431734T>C	GRCh37
NC_000005.8:g.148411927T>C	NCBI36
NG_007947.2:g.16004A>G , LRG_269:g.16004A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.122A>G MANE Select	NP_078853.2:p.Lys41Arg
ENST00000515425.6:c.122A>G MANE Select	ENSP00000423660.1:p.Lys41Arg
NM_024577.3:c.122A>G , LRG_269t1:c.122A>G	NP_078853.2:p.Lys41Arg
ENST00000323829.9:c.122A>G	ENSP00000313025.5:p.Lys41Arg
ENST00000502274.2:c.70A>G
ENST00000504091.1:n.158A>G
ENST00000504690.5:c.122A>G	ENSP00000425627.1:p.Lys41Arg
ENST00000511307.5:c.122A>G	ENSP00000421420.1:p.Lys41Arg
ENST00000511949.5:n.162A>G
ENST00000512049.5:c.122A>G	ENSP00000421860.1:p.Lys41Arg
ENST00000513604.5:c.122A>G	ENSP00000423111.1:p.Lys41Arg
ENST00000515425.5:c.122A>G	ENSP00000423660.1:p.Lys41Arg
ENST00000674983.1:c.122A>G	ENSP00000502387.1:p.Lys41Arg
ENST00000675793.1:c.122A>G	ENSP00000502039.1:p.Lys41Arg
ENST00000676056.1:c.122A>G	ENSP00000501827.1:p.Lys41Arg