Canonical Allele Identifier: CA3498791
Gene: SH3TC2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149010304G>A
GRCh37 chr5:g.148389867G>A
Revel Score:
ENST00000538184 0.257
ENST00000515425 (MANE Select) 0.257
ENST00000512049 0.257
gnomAD v2:
5:148389867 G / A
gnomAD v3:
5:149010304 G / A
gnomAD v4:
chr5-149010304-G-A
Joint Max Group AF 0.0000631 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00006409 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149010304G>A , CM000667.2:g.149010304G>A GRCh38
NC_000005.9:g.148389867G>A , CM000667.1:g.148389867G>A GRCh37
NC_000005.8:g.148370060G>A NCBI36
NG_007947.2:g.57871C>T , LRG_269:g.57871C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3189C>T
ENST00000515425.6:c.3293C>T MANE Select ENSP00000423660.1:p.Thr1098Ile
ENST00000675793.1:c.*2577C>T ENSP00000502039.1:n.*2577C>T
ENST00000323829.9:c.*2681C>T ENSP00000313025.5:n.*2681C>T
ENST00000504517.5:c.2823C>T ENSP00000421779.1:n.2823C>T
ENST00000504690.5:c.3293C>T ENSP00000425627.1:p.Thr1098Ile
ENST00000510779.1:c.2343C>T
ENST00000512049.5:c.3272C>T ENSP00000421860.1:p.Thr1091Ile
ENST00000515425.5:c.3293C>T ENSP00000423660.1:p.Thr1098Ile
NM_024577.3:c.3293C>T , LRG_269t1:c.3293C>T NP_078853.2:p.Thr1098Ile
NM_024577.4:c.3293C>T MANE Select NP_078853.2:p.Thr1098Ile
Search 100 bp 5'
Search 100 bp 3'