Canonical Allele Identifier: CA128983394

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1020061675
• gnomAD v3: 5-149026658-G-A
• gnomAD v4: 5-149026658-G-A
• MyVariant Identifiers: chr5:g.148406221G>A (hg19) ; chr5:g.149026658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026658G>A , CM000667.2:g.149026658G>A	GRCh38
NC_000005.9:g.148406221G>A , CM000667.1:g.148406221G>A	GRCh37
NC_000005.8:g.148386414G>A	NCBI36
NG_007947.2:g.41517C>T , LRG_269:g.41517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2863C>T
ENST00000515425.6:c.2967C>T MANE Select	ENSP00000423660.1:p.Ala989=
ENST00000675793.1:c.*2251C>T	ENSP00000502039.1:n.*2251C>T
ENST00000676056.1:c.*2477C>T	ENSP00000501827.1:n.*2477C>T
ENST00000323829.9:c.*2355C>T	ENSP00000313025.5:n.*2355C>T
ENST00000504517.5:c.2497C>T	ENSP00000421779.1:n.2497C>T
ENST00000504690.5:c.2967C>T	ENSP00000425627.1:p.Ala989=
ENST00000510779.1:c.2017C>T
ENST00000511307.5:c.*2854C>T	ENSP00000421420.1:n.*2854C>T
ENST00000512049.5:c.2946C>T	ENSP00000421860.1:p.Ala982=
ENST00000513604.5:c.*2462C>T	ENSP00000423111.1:n.*2462C>T
ENST00000515425.5:c.2967C>T	ENSP00000423660.1:p.Ala989=
NM_024577.3:c.2967C>T , LRG_269t1:c.2967C>T	NP_078853.2:p.Ala989=
NM_024577.4:c.2967C>T MANE Select	NP_078853.2:p.Ala989=