Canonical Allele Identifier: CA3498795

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149010310T>C , CM000667.2:g.149010310T>C	GRCh38
NC_000005.9:g.148389873T>C , CM000667.1:g.148389873T>C	GRCh37
NC_000005.8:g.148370066T>C	NCBI36
NG_007947.2:g.57865A>G , LRG_269:g.57865A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3287A>G MANE Select	NP_078853.2:p.Asn1096Ser
ENST00000515425.6:c.3287A>G MANE Select	ENSP00000423660.1:p.Asn1096Ser
NM_024577.3:c.3287A>G , LRG_269t1:c.3287A>G	NP_078853.2:p.Asn1096Ser
ENST00000323829.9:c.*2675A>G	ENSP00000313025.5:n.*2675A>G
ENST00000502274.2:c.3183A>G
ENST00000504517.5:c.2817A>G	ENSP00000421779.1:n.2817A>G
ENST00000504690.5:c.3287A>G	ENSP00000425627.1:p.Asn1096Ser
ENST00000510779.1:c.2337A>G
ENST00000512049.5:c.3266A>G	ENSP00000421860.1:p.Asn1089Ser
ENST00000515425.5:c.3287A>G	ENSP00000423660.1:p.Asn1096Ser
ENST00000675793.1:c.*2571A>G	ENSP00000502039.1:n.*2571A>G