Canonical Allele Identifier: CA447399727

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027944-A-G
• MyVariant Identifiers: chr5:g.148407507A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027944A>G , CM000667.2:g.149027944A>G	GRCh38
NC_000005.9:g.148407507A>G , CM000667.1:g.148407507A>G	GRCh37
NC_000005.8:g.148387700A>G	NCBI36
NG_007947.2:g.40231T>C , LRG_269:g.40231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1684T>C
ENST00000515425.6:c.1788T>C MANE Select	ENSP00000423660.1:p.Gly596=
ENST00000675793.1:c.*1072T>C	ENSP00000502039.1:n.*1072T>C
ENST00000676056.1:c.*1298T>C	ENSP00000501827.1:n.*1298T>C
ENST00000323829.9:c.*1176T>C	ENSP00000313025.5:n.*1176T>C
ENST00000504517.5:c.1318T>C	ENSP00000421779.1:n.1318T>C
ENST00000504690.5:c.1788T>C	ENSP00000425627.1:p.Gly596=
ENST00000510779.1:c.838T>C
ENST00000511307.5:c.*1568T>C	ENSP00000421420.1:n.*1568T>C
ENST00000512049.5:c.1767T>C	ENSP00000421860.1:p.Gly589=
ENST00000513604.5:c.*1176T>C	ENSP00000423111.1:n.*1176T>C
ENST00000515425.5:c.1788T>C	ENSP00000423660.1:p.Gly596=
NM_024577.3:c.1788T>C , LRG_269t1:c.1788T>C	NP_078853.2:p.Gly596=
NM_024577.4:c.1788T>C MANE Select	NP_078853.2:p.Gly596=