Canonical Allele Identifier: CA2578445997

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149062901-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149062901G>T , CM000667.2:g.149062901G>T	GRCh38
NC_000005.9:g.148442464G>T , CM000667.1:g.148442464G>T	GRCh37
NC_000005.8:g.148422657G>T	NCBI36
NG_007947.2:g.5274C>A , LRG_269:g.5274C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000515425.6:c.52+70C>A MANE Select	ENSP00000423660.1:n.52+70C>A
ENST00000674983.1:c.52+70C>A	ENSP00000502387.1:n.52+70C>A
ENST00000675793.1:c.52+70C>A	ENSP00000502039.1:n.52+70C>A
ENST00000676056.1:c.52+70C>A	ENSP00000501827.1:n.52+70C>A
ENST00000323829.9:c.52+70C>A	ENSP00000313025.5:n.52+70C>A
ENST00000504091.1:n.88+70C>A
ENST00000504690.5:c.52+70C>A	ENSP00000425627.1:n.52+70C>A
ENST00000511307.5:c.52+70C>A	ENSP00000421420.1:n.52+70C>A
ENST00000511949.5:n.92+70C>A
ENST00000512049.5:c.52+70C>A	ENSP00000421860.1:n.52+70C>A
ENST00000513604.5:c.52+70C>A	ENSP00000423111.1:n.52+70C>A
ENST00000515425.5:c.52+70C>A	ENSP00000423660.1:n.52+70C>A
NM_024577.3:c.52+70C>A , LRG_269t1:c.52+70C>A	NP_078853.2:n.52+70C>A
NM_024577.4:c.52+70C>A MANE Select	NP_078853.2:n.52+70C>A