Canonical Allele Identifier: CA361668904

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028324T>G , CM000667.2:g.149028324T>G	GRCh38
NC_000005.9:g.148407887T>G , CM000667.1:g.148407887T>G	GRCh37
NC_000005.8:g.148388080T>G	NCBI36
NG_007947.2:g.39851A>C , LRG_269:g.39851A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1408A>C MANE Select	NP_078853.2:p.Ile470Leu
ENST00000515425.6:c.1408A>C MANE Select	ENSP00000423660.1:p.Ile470Leu
NM_024577.3:c.1408A>C , LRG_269t1:c.1408A>C	NP_078853.2:p.Ile470Leu
ENST00000323829.9:c.*796A>C	ENSP00000313025.5:n.*796A>C
ENST00000502274.2:c.1395+33A>C
ENST00000504517.5:c.938A>C	ENSP00000421779.1:n.938A>C
ENST00000504690.5:c.1408A>C	ENSP00000425627.1:p.Ile470Leu
ENST00000510779.1:c.458A>C
ENST00000511307.5:c.*1188A>C	ENSP00000421420.1:n.*1188A>C
ENST00000512049.5:c.1387A>C	ENSP00000421860.1:p.Ile463Leu
ENST00000513604.5:c.*796A>C	ENSP00000423111.1:n.*796A>C
ENST00000515425.5:c.1408A>C	ENSP00000423660.1:p.Ile470Leu
ENST00000675793.1:c.*692A>C	ENSP00000502039.1:n.*692A>C
ENST00000676056.1:c.*918A>C	ENSP00000501827.1:n.*918A>C