Canonical Allele Identifier: CA361664024

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149006951-C-T
• MyVariant Identifiers: chr5:g.148386514C>T (hg19) ; chr5:g.149006951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006951C>T , CM000667.2:g.149006951C>T	GRCh38
NC_000005.9:g.148386514C>T , CM000667.1:g.148386514C>T	GRCh37
NC_000005.8:g.148366707C>T	NCBI36
NG_007947.2:g.61224G>A , LRG_269:g.61224G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4458G>A
ENST00000515425.6:c.3605G>A MANE Select	ENSP00000423660.1:p.Ser1202Asn
ENST00000675793.1:c.*4662G>A	ENSP00000502039.1:n.*4662G>A
ENST00000323829.9:c.*2993G>A	ENSP00000313025.5:n.*2993G>A
ENST00000502274.1:c.191G>A	ENSP00000421092.1:p.Ser64Asn
ENST00000504517.5:c.3127G>A	ENSP00000421779.1:n.3127G>A
ENST00000504690.5:c.3605G>A	ENSP00000425627.1:p.Ser1202Asn
ENST00000510350.1:n.161G>A
ENST00000510779.1:c.2655G>A
ENST00000512049.5:c.3584G>A	ENSP00000421860.1:p.Ser1195Asn
ENST00000515229.5:n.267G>A
ENST00000515425.5:c.3605G>A	ENSP00000423660.1:p.Ser1202Asn
NM_024577.3:c.3605G>A , LRG_269t1:c.3605G>A	NP_078853.2:p.Ser1202Asn
NM_024577.4:c.3605G>A MANE Select	NP_078853.2:p.Ser1202Asn