Canonical Allele Identifier: CA3499391

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 450820
• ClinVar RCV Id: RCV000520448 ; RCV000654163 ; RCV001332529 ; RCV002420317
• dbSNP Id: rs149873249
• ExAC: 5:148420178 G / A
• gnomAD v2: 5-148420178-G-A
• gnomAD v3: 5-149040615-G-A
• gnomAD v4: 5-149040615-G-A
• MyVariant Identifiers: chr5:g.148420178G>A (hg19) ; chr5:g.149040615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149040615G>A , CM000667.2:g.149040615G>A	GRCh38
NC_000005.9:g.148420178G>A , CM000667.1:g.148420178G>A	GRCh37
NC_000005.8:g.148400371G>A	NCBI36
NG_007947.2:g.27560C>T , LRG_269:g.27560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.684C>T
ENST00000515425.6:c.794C>T MANE Select	ENSP00000423660.1:p.Ser265Phe
ENST00000674655.1:c.56C>T	ENSP00000502840.1:p.Ser19Phe
ENST00000674983.1:c.*52C>T	ENSP00000502387.1:n.*52C>T
ENST00000675793.1:c.794C>T	ENSP00000502039.1:p.Ser265Phe
ENST00000676056.1:c.*52C>T	ENSP00000501827.1:n.*52C>T
ENST00000676367.1:n.352C>T
ENST00000323829.9:c.*52C>T	ENSP00000313025.5:n.*52C>T
ENST00000503071.1:n.261C>T
ENST00000504517.5:c.194C>T	ENSP00000421779.1:p.Ser65Phe
ENST00000504690.5:c.794C>T	ENSP00000425627.1:p.Ser265Phe
ENST00000511307.5:c.*574C>T	ENSP00000421420.1:n.*574C>T
ENST00000512049.5:c.773C>T	ENSP00000421860.1:p.Ser258Phe
ENST00000513604.5:c.*52C>T	ENSP00000423111.1:n.*52C>T
ENST00000515425.5:c.794C>T	ENSP00000423660.1:p.Ser265Phe
NM_024577.3:c.794C>T , LRG_269t1:c.794C>T	NP_078853.2:p.Ser265Phe
NM_024577.4:c.794C>T MANE Select	NP_078853.2:p.Ser265Phe