Canonical Allele Identifier: CA1082795933

Gene: SH3TC2

Linked Data

• gnomAD v3: 5-149062905-C-A
• gnomAD v4: 5-149062905-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149062905C>A , CM000667.2:g.149062905C>A	GRCh38
NC_000005.9:g.148442468C>A , CM000667.1:g.148442468C>A	GRCh37
NC_000005.8:g.148422661C>A	NCBI36
NG_007947.2:g.5270G>T , LRG_269:g.5270G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000515425.6:c.52+66G>T MANE Select	ENSP00000423660.1:n.52+66G>T
ENST00000674983.1:c.52+66G>T	ENSP00000502387.1:n.52+66G>T
ENST00000675793.1:c.52+66G>T	ENSP00000502039.1:n.52+66G>T
ENST00000676056.1:c.52+66G>T	ENSP00000501827.1:n.52+66G>T
ENST00000323829.9:c.52+66G>T	ENSP00000313025.5:n.52+66G>T
ENST00000504091.1:n.88+66G>T
ENST00000504690.5:c.52+66G>T	ENSP00000425627.1:n.52+66G>T
ENST00000511307.5:c.52+66G>T	ENSP00000421420.1:n.52+66G>T
ENST00000511949.5:n.92+66G>T
ENST00000512049.5:c.52+66G>T	ENSP00000421860.1:n.52+66G>T
ENST00000513604.5:c.52+66G>T	ENSP00000423111.1:n.52+66G>T
ENST00000515425.5:c.52+66G>T	ENSP00000423660.1:n.52+66G>T
NM_024577.3:c.52+66G>T , LRG_269t1:c.52+66G>T	NP_078853.2:n.52+66G>T
NM_024577.4:c.52+66G>T MANE Select	NP_078853.2:n.52+66G>T