Canonical Allele Identifier: CA361664526

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008890-C-T
• MyVariant Identifiers: chr5:g.148388453C>T (hg19) ; chr5:g.149008890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008890C>T , CM000667.2:g.149008890C>T	GRCh38
NC_000005.9:g.148388453C>T , CM000667.1:g.148388453C>T	GRCh37
NC_000005.8:g.148368646C>T	NCBI36
NG_007947.2:g.59285G>A , LRG_269:g.59285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3335G>A
ENST00000515425.6:c.3439G>A MANE Select	ENSP00000423660.1:p.Glu1147Lys
ENST00000675793.1:c.*2723G>A	ENSP00000502039.1:n.*2723G>A
ENST00000323829.9:c.*2827G>A	ENSP00000313025.5:n.*2827G>A
ENST00000504517.5:c.2969G>A	ENSP00000421779.1:n.2969G>A
ENST00000504690.5:c.3439G>A	ENSP00000425627.1:p.Glu1147Lys
ENST00000510779.1:c.2489G>A
ENST00000512049.5:c.3418G>A	ENSP00000421860.1:p.Glu1140Lys
ENST00000515229.5:n.101G>A
ENST00000515425.5:c.3439G>A	ENSP00000423660.1:p.Glu1147Lys
NM_024577.3:c.3439G>A , LRG_269t1:c.3439G>A	NP_078853.2:p.Glu1147Lys
NM_024577.4:c.3439G>A MANE Select	NP_078853.2:p.Glu1147Lys