Canonical Allele Identifier: CA361665075

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406150T>C (hg19) ; chr5:g.149026587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026587T>C , CM000667.2:g.149026587T>C	GRCh38
NC_000005.9:g.148406150T>C , CM000667.1:g.148406150T>C	GRCh37
NC_000005.8:g.148386343T>C	NCBI36
NG_007947.2:g.41588A>G , LRG_269:g.41588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2934A>G
ENST00000515425.6:c.3038A>G MANE Select	ENSP00000423660.1:p.Asn1013Ser
ENST00000675793.1:c.*2322A>G	ENSP00000502039.1:n.*2322A>G
ENST00000676056.1:c.*2548A>G	ENSP00000501827.1:n.*2548A>G
ENST00000323829.9:c.*2426A>G	ENSP00000313025.5:n.*2426A>G
ENST00000504517.5:c.2568A>G	ENSP00000421779.1:n.2568A>G
ENST00000504690.5:c.3038A>G	ENSP00000425627.1:p.Asn1013Ser
ENST00000510779.1:c.2088A>G
ENST00000511307.5:c.*2925A>G	ENSP00000421420.1:n.*2925A>G
ENST00000512049.5:c.3017A>G	ENSP00000421860.1:p.Asn1006Ser
ENST00000513604.5:c.*2533A>G	ENSP00000423111.1:n.*2533A>G
ENST00000515425.5:c.3038A>G	ENSP00000423660.1:p.Asn1013Ser
NM_024577.3:c.3038A>G , LRG_269t1:c.3038A>G	NP_078853.2:p.Asn1013Ser
NM_024577.4:c.3038A>G MANE Select	NP_078853.2:p.Asn1013Ser