Canonical Allele Identifier: CA3498842

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149012645A>G , CM000667.2:g.149012645A>G	GRCh38
NC_000005.9:g.148392208A>G , CM000667.1:g.148392208A>G	GRCh37
NC_000005.8:g.148372401A>G	NCBI36
NG_007947.2:g.55530T>C , LRG_269:g.55530T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3143T>C MANE Select	NP_078853.2:p.Leu1048Pro
ENST00000515425.6:c.3143T>C MANE Select	ENSP00000423660.1:p.Leu1048Pro
NM_024577.3:c.3143T>C , LRG_269t1:c.3143T>C	NP_078853.2:p.Leu1048Pro
ENST00000323829.9:c.*2531T>C	ENSP00000313025.5:n.*2531T>C
ENST00000502274.2:c.3039T>C
ENST00000504517.5:c.2673T>C	ENSP00000421779.1:n.2673T>C
ENST00000504690.5:c.3143T>C	ENSP00000425627.1:p.Leu1048Pro
ENST00000510779.1:c.2193T>C
ENST00000512049.5:c.3122T>C	ENSP00000421860.1:p.Leu1041Pro
ENST00000515425.5:c.3143T>C	ENSP00000423660.1:p.Leu1048Pro
ENST00000675793.1:c.*2427T>C	ENSP00000502039.1:n.*2427T>C
ENST00000676056.1:c.*2794T>C	ENSP00000501827.1:n.*2794T>C