Canonical Allele Identifier: CA3499168

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 476885
• ClinVar RCV Id: RCV000659030 ; RCV001080870 ; RCV001172850 ; RCV004530580 ; RCV002395482
• dbSNP Id: rs200665714
• ExAC: 5:148407813 G / A
• gnomAD v2: 5-148407813-G-A
• gnomAD v3: 5-149028250-G-A
• gnomAD v4: 5-149028250-G-A
• MyVariant Identifiers: chr5:g.148407813G>A (hg19) ; chr5:g.149028250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028250G>A , CM000667.2:g.149028250G>A	GRCh38
NC_000005.9:g.148407813G>A , CM000667.1:g.148407813G>A	GRCh37
NC_000005.8:g.148388006G>A	NCBI36
NG_007947.2:g.39925C>T , LRG_269:g.39925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1396-18C>T
ENST00000515425.6:c.1482C>T MANE Select	ENSP00000423660.1:p.Leu494=
ENST00000675793.1:c.*766C>T	ENSP00000502039.1:n.*766C>T
ENST00000676056.1:c.*992C>T	ENSP00000501827.1:n.*992C>T
ENST00000323829.9:c.*870C>T	ENSP00000313025.5:n.*870C>T
ENST00000504517.5:c.1012C>T	ENSP00000421779.1:n.1012C>T
ENST00000504690.5:c.1482C>T	ENSP00000425627.1:p.Leu494=
ENST00000510779.1:c.532C>T
ENST00000511307.5:c.*1262C>T	ENSP00000421420.1:n.*1262C>T
ENST00000512049.5:c.1461C>T	ENSP00000421860.1:p.Leu487=
ENST00000513604.5:c.*870C>T	ENSP00000423111.1:n.*870C>T
ENST00000515425.5:c.1482C>T	ENSP00000423660.1:p.Leu494=
NM_024577.3:c.1482C>T , LRG_269t1:c.1482C>T	NP_078853.2:p.Leu494=
NM_024577.4:c.1482C>T MANE Select	NP_078853.2:p.Leu494=