Canonical Allele Identifier: CA361667348

Gene: SH3TC2

Linked Data

• dbSNP Id: rs80338926
• gnomAD v2: 5-148407323-G-T
• gnomAD v4: 5-149027760-G-T
• MyVariant Identifiers: chr5:g.148407323G>T (hg19) ; chr5:g.149027760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027760G>T , CM000667.2:g.149027760G>T	GRCh38
NC_000005.9:g.148407323G>T , CM000667.1:g.148407323G>T	GRCh37
NC_000005.8:g.148387516G>T	NCBI36
NG_007947.2:g.40415C>A , LRG_269:g.40415C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1868C>A
ENST00000515425.6:c.1972C>A MANE Select	ENSP00000423660.1:p.Arg658Ser
ENST00000675793.1:c.*1256C>A	ENSP00000502039.1:n.*1256C>A
ENST00000676056.1:c.*1482C>A	ENSP00000501827.1:n.*1482C>A
ENST00000323829.9:c.*1360C>A	ENSP00000313025.5:n.*1360C>A
ENST00000504517.5:c.1502C>A	ENSP00000421779.1:n.1502C>A
ENST00000504690.5:c.1972C>A	ENSP00000425627.1:p.Arg658Ser
ENST00000510779.1:c.1022C>A
ENST00000511307.5:c.*1752C>A	ENSP00000421420.1:n.*1752C>A
ENST00000512049.5:c.1951C>A	ENSP00000421860.1:p.Arg651Ser
ENST00000513604.5:c.*1360C>A	ENSP00000423111.1:n.*1360C>A
ENST00000515425.5:c.1972C>A	ENSP00000423660.1:p.Arg658Ser
NM_024577.3:c.1972C>A , LRG_269t1:c.1972C>A	NP_078853.2:p.Arg658Ser
NM_024577.4:c.1972C>A MANE Select	NP_078853.2:p.Arg658Ser