Canonical Allele Identifier: CA339459

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 216120
• ClinVar RCV Id: RCV000200652 ; RCV000789577 ; RCV001699003
• dbSNP Id: rs776221160
• ExAC: 5:148427425 C / T
• gnomAD v2: 5-148427425-C-T
• gnomAD v3: 5-149047862-C-T
• gnomAD v4: 5-149047862-C-T
• MyVariant Identifiers: chr5:g.148427425C>T (hg19) ; chr5:g.149047862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149047862C>T , CM000667.2:g.149047862C>T	GRCh38
NC_000005.9:g.148427425C>T , CM000667.1:g.148427425C>T	GRCh37
NC_000005.8:g.148407618C>T	NCBI36
NG_007947.2:g.20313G>A , LRG_269:g.20313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.227G>A
ENST00000515425.6:c.279G>A MANE Select	ENSP00000423660.1:p.Lys93=
ENST00000674983.1:c.279G>A	ENSP00000502387.1:p.Lys93=
ENST00000675793.1:c.279G>A	ENSP00000502039.1:p.Lys93=
ENST00000676056.1:c.279G>A	ENSP00000501827.1:p.Lys93=
ENST00000323829.9:c.279G>A	ENSP00000313025.5:p.Lys93=
ENST00000504091.1:n.315G>A
ENST00000504690.5:c.279G>A	ENSP00000425627.1:p.Lys93=
ENST00000511307.5:c.279G>A	ENSP00000421420.1:p.Lys93=
ENST00000511949.5:n.349G>A
ENST00000512049.5:c.279G>A	ENSP00000421860.1:p.Lys93=
ENST00000513604.5:c.279G>A	ENSP00000423111.1:p.Lys93=
ENST00000515425.5:c.279G>A	ENSP00000423660.1:p.Lys93=
NM_024577.3:c.279G>A , LRG_269t1:c.279G>A	NP_078853.2:p.Lys93=
NM_024577.4:c.279G>A MANE Select	NP_078853.2:p.Lys93=