Canonical Allele Identifier: CA361664233

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148386613A>G (hg19) ; chr5:g.149007050A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007050A>G , CM000667.2:g.149007050A>G	GRCh38
NC_000005.9:g.148386613A>G , CM000667.1:g.148386613A>G	GRCh37
NC_000005.8:g.148366806A>G	NCBI36
NG_007947.2:g.61125T>C , LRG_269:g.61125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4359T>C
ENST00000515425.6:c.3506T>C MANE Select	ENSP00000423660.1:p.Phe1169Ser
ENST00000675793.1:c.*4563T>C	ENSP00000502039.1:n.*4563T>C
ENST00000323829.9:c.*2894T>C	ENSP00000313025.5:n.*2894T>C
ENST00000502274.1:c.92T>C	ENSP00000421092.1:p.Phe31Ser
ENST00000504517.5:c.3028T>C	ENSP00000421779.1:n.3028T>C
ENST00000504690.5:c.3506T>C	ENSP00000425627.1:p.Phe1169Ser
ENST00000510350.1:n.62T>C
ENST00000510779.1:c.2556T>C
ENST00000512049.5:c.3485T>C	ENSP00000421860.1:p.Phe1162Ser
ENST00000515229.5:n.168T>C
ENST00000515425.5:c.3506T>C	ENSP00000423660.1:p.Phe1169Ser
NM_024577.3:c.3506T>C , LRG_269t1:c.3506T>C	NP_078853.2:p.Phe1169Ser
NM_024577.4:c.3506T>C MANE Select	NP_078853.2:p.Phe1169Ser