Canonical Allele Identifier: CA447399544

Gene: SH3TC2

Linked Data

• dbSNP Id: rs143197881
• gnomAD v2: 5-148407405-C-A
• gnomAD v4: 5-149027842-C-A
• MyVariant Identifiers: chr5:g.148407405C>A (hg19) ; chr5:g.149027842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027842C>A , CM000667.2:g.149027842C>A	GRCh38
NC_000005.9:g.148407405C>A , CM000667.1:g.148407405C>A	GRCh37
NC_000005.8:g.148387598C>A	NCBI36
NG_007947.2:g.40333G>T , LRG_269:g.40333G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1786G>T
ENST00000515425.6:c.1890G>T MANE Select	ENSP00000423660.1:p.Pro630=
ENST00000675793.1:c.*1174G>T	ENSP00000502039.1:n.*1174G>T
ENST00000676056.1:c.*1400G>T	ENSP00000501827.1:n.*1400G>T
ENST00000323829.9:c.*1278G>T	ENSP00000313025.5:n.*1278G>T
ENST00000504517.5:c.1420G>T	ENSP00000421779.1:n.1420G>T
ENST00000504690.5:c.1890G>T	ENSP00000425627.1:p.Pro630=
ENST00000510779.1:c.940G>T
ENST00000511307.5:c.*1670G>T	ENSP00000421420.1:n.*1670G>T
ENST00000512049.5:c.1869G>T	ENSP00000421860.1:p.Pro623=
ENST00000513604.5:c.*1278G>T	ENSP00000423111.1:n.*1278G>T
ENST00000515425.5:c.1890G>T	ENSP00000423660.1:p.Pro630=
NM_024577.3:c.1890G>T , LRG_269t1:c.1890G>T	NP_078853.2:p.Pro630=
NM_024577.4:c.1890G>T MANE Select	NP_078853.2:p.Pro630=