Canonical Allele Identifier: CA447399498

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027797-G-A
• MyVariant Identifiers: chr5:g.148407360G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027797G>A , CM000667.2:g.149027797G>A	GRCh38
NC_000005.9:g.148407360G>A , CM000667.1:g.148407360G>A	GRCh37
NC_000005.8:g.148387553G>A	NCBI36
NG_007947.2:g.40378C>T , LRG_269:g.40378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1831C>T
ENST00000515425.6:c.1935C>T MANE Select	ENSP00000423660.1:p.Ser645=
ENST00000675793.1:c.*1219C>T	ENSP00000502039.1:n.*1219C>T
ENST00000676056.1:c.*1445C>T	ENSP00000501827.1:n.*1445C>T
ENST00000323829.9:c.*1323C>T	ENSP00000313025.5:n.*1323C>T
ENST00000504517.5:c.1465C>T	ENSP00000421779.1:n.1465C>T
ENST00000504690.5:c.1935C>T	ENSP00000425627.1:p.Ser645=
ENST00000510779.1:c.985C>T
ENST00000511307.5:c.*1715C>T	ENSP00000421420.1:n.*1715C>T
ENST00000512049.5:c.1914C>T	ENSP00000421860.1:p.Ser638=
ENST00000513604.5:c.*1323C>T	ENSP00000423111.1:n.*1323C>T
ENST00000515425.5:c.1935C>T	ENSP00000423660.1:p.Ser645=
NM_024577.3:c.1935C>T , LRG_269t1:c.1935C>T	NP_078853.2:p.Ser645=
NM_024577.4:c.1935C>T MANE Select	NP_078853.2:p.Ser645=