Canonical Allele Identifier: CA361667441

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1754099203
• gnomAD v4: 5-149027806-C-A
• MyVariant Identifiers: chr5:g.148407369C>A (hg19) ; chr5:g.149027806C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027806C>A , CM000667.2:g.149027806C>A	GRCh38
NC_000005.9:g.148407369C>A , CM000667.1:g.148407369C>A	GRCh37
NC_000005.8:g.148387562C>A	NCBI36
NG_007947.2:g.40369G>T , LRG_269:g.40369G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1822G>T
ENST00000515425.6:c.1926G>T MANE Select	ENSP00000423660.1:p.Leu642Phe
ENST00000675793.1:c.*1210G>T	ENSP00000502039.1:n.*1210G>T
ENST00000676056.1:c.*1436G>T	ENSP00000501827.1:n.*1436G>T
ENST00000323829.9:c.*1314G>T	ENSP00000313025.5:n.*1314G>T
ENST00000504517.5:c.1456G>T	ENSP00000421779.1:n.1456G>T
ENST00000504690.5:c.1926G>T	ENSP00000425627.1:p.Leu642Phe
ENST00000510779.1:c.976G>T
ENST00000511307.5:c.*1706G>T	ENSP00000421420.1:n.*1706G>T
ENST00000512049.5:c.1905G>T	ENSP00000421860.1:p.Leu635Phe
ENST00000513604.5:c.*1314G>T	ENSP00000423111.1:n.*1314G>T
ENST00000515425.5:c.1926G>T	ENSP00000423660.1:p.Leu642Phe
NM_024577.3:c.1926G>T , LRG_269t1:c.1926G>T	NP_078853.2:p.Leu642Phe
NM_024577.4:c.1926G>T MANE Select	NP_078853.2:p.Leu642Phe