Canonical Allele Identifier: CA3498833
Gene: SH3TC2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149012622G>A
GRCh37 chr5:g.148392185G>A
Revel Score:
ENST00000538184 0.461
ENST00000515425 (MANE Select) 0.461
ENST00000512049 0.461
gnomAD v2:
5:148392185 G / A
gnomAD v3:
5:149012622 G / A
gnomAD v4:
chr5-149012622-G-A
Joint Max Group AF 0.00021369 (NFE)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00021875 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149012622G>A , CM000667.2:g.149012622G>A GRCh38
NC_000005.9:g.148392185G>A , CM000667.1:g.148392185G>A GRCh37
NC_000005.8:g.148372378G>A NCBI36
NG_007947.2:g.55553C>T , LRG_269:g.55553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3062C>T
ENST00000515425.6:c.3166C>T MANE Select ENSP00000423660.1:p.Leu1056Phe
ENST00000675793.1:c.*2450C>T ENSP00000502039.1:n.*2450C>T
ENST00000676056.1:c.*2817C>T ENSP00000501827.1:n.*2817C>T
ENST00000323829.9:c.*2554C>T ENSP00000313025.5:n.*2554C>T
ENST00000504517.5:c.2696C>T ENSP00000421779.1:n.2696C>T
ENST00000504690.5:c.3166C>T ENSP00000425627.1:p.Leu1056Phe
ENST00000510779.1:c.2216C>T
ENST00000512049.5:c.3145C>T ENSP00000421860.1:p.Leu1049Phe
ENST00000515425.5:c.3166C>T ENSP00000423660.1:p.Leu1056Phe
NM_024577.3:c.3166C>T , LRG_269t1:c.3166C>T NP_078853.2:p.Leu1056Phe
NM_024577.4:c.3166C>T MANE Select NP_078853.2:p.Leu1056Phe
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