Canonical Allele Identifier: CA361667517

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1402661482
• gnomAD v2: 5-148407407-G-A
• gnomAD v4: 5-149027844-G-A
• MyVariant Identifiers: chr5:g.148407407G>A (hg19) ; chr5:g.149027844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027844G>A , CM000667.2:g.149027844G>A	GRCh38
NC_000005.9:g.148407407G>A , CM000667.1:g.148407407G>A	GRCh37
NC_000005.8:g.148387600G>A	NCBI36
NG_007947.2:g.40331C>T , LRG_269:g.40331C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1784C>T
ENST00000515425.6:c.1888C>T MANE Select	ENSP00000423660.1:p.Pro630Ser
ENST00000675793.1:c.*1172C>T	ENSP00000502039.1:n.*1172C>T
ENST00000676056.1:c.*1398C>T	ENSP00000501827.1:n.*1398C>T
ENST00000323829.9:c.*1276C>T	ENSP00000313025.5:n.*1276C>T
ENST00000504517.5:c.1418C>T	ENSP00000421779.1:n.1418C>T
ENST00000504690.5:c.1888C>T	ENSP00000425627.1:p.Pro630Ser
ENST00000510779.1:c.938C>T
ENST00000511307.5:c.*1668C>T	ENSP00000421420.1:n.*1668C>T
ENST00000512049.5:c.1867C>T	ENSP00000421860.1:p.Pro623Ser
ENST00000513604.5:c.*1276C>T	ENSP00000423111.1:n.*1276C>T
ENST00000515425.5:c.1888C>T	ENSP00000423660.1:p.Pro630Ser
NM_024577.3:c.1888C>T , LRG_269t1:c.1888C>T	NP_078853.2:p.Pro630Ser
NM_024577.4:c.1888C>T MANE Select	NP_078853.2:p.Pro630Ser