Canonical Allele Identifier: CA361667683

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027924-G-A
• MyVariant Identifiers: chr5:g.148407487G>A (hg19) ; chr5:g.149027924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027924G>A , CM000667.2:g.149027924G>A	GRCh38
NC_000005.9:g.148407487G>A , CM000667.1:g.148407487G>A	GRCh37
NC_000005.8:g.148387680G>A	NCBI36
NG_007947.2:g.40251C>T , LRG_269:g.40251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1704C>T
ENST00000515425.6:c.1808C>T MANE Select	ENSP00000423660.1:p.Pro603Leu
ENST00000675793.1:c.*1092C>T	ENSP00000502039.1:n.*1092C>T
ENST00000676056.1:c.*1318C>T	ENSP00000501827.1:n.*1318C>T
ENST00000323829.9:c.*1196C>T	ENSP00000313025.5:n.*1196C>T
ENST00000504517.5:c.1338C>T	ENSP00000421779.1:n.1338C>T
ENST00000504690.5:c.1808C>T	ENSP00000425627.1:p.Pro603Leu
ENST00000510779.1:c.858C>T
ENST00000511307.5:c.*1588C>T	ENSP00000421420.1:n.*1588C>T
ENST00000512049.5:c.1787C>T	ENSP00000421860.1:p.Pro596Leu
ENST00000513604.5:c.*1196C>T	ENSP00000423111.1:n.*1196C>T
ENST00000515425.5:c.1808C>T	ENSP00000423660.1:p.Pro603Leu
NM_024577.3:c.1808C>T , LRG_269t1:c.1808C>T	NP_078853.2:p.Pro603Leu
NM_024577.4:c.1808C>T MANE Select	NP_078853.2:p.Pro603Leu