Canonical Allele Identifier: CA361674611
Community Standard Title: NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149041527G>C , CM000667.2:g.149041527G>C GRCh38
NC_000005.9:g.148421090G>C , CM000667.1:g.148421090G>C GRCh37
NC_000005.8:g.148401283G>C NCBI36
NG_007947.2:g.26648C>G , LRG_269:g.26648C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.620C>G MANE Select NP_078853.2:p.Ser207Ter
ENST00000515425.6:c.620C>G MANE Select ENSP00000423660.1:p.Ser207Ter
NM_024577.3:c.620C>G , LRG_269t1:c.620C>G NP_078853.2:p.Ser207Ter
ENST00000323829.9:c.620C>G ENSP00000313025.5:p.Ser207Ter
ENST00000502274.2:c.568C>G
ENST00000503071.1:n.145C>G
ENST00000504517.5:c.20C>G ENSP00000421779.1:p.Ser7Ter
ENST00000504690.5:c.620C>G ENSP00000425627.1:p.Ser207Ter
ENST00000511307.5:c.*400C>G ENSP00000421420.1:n.*400C>G
ENST00000512049.5:c.599C>G ENSP00000421860.1:p.Ser200Ter
ENST00000513604.5:c.620C>G ENSP00000423111.1:p.Ser207Ter
ENST00000515425.5:c.620C>G ENSP00000423660.1:p.Ser207Ter
ENST00000674983.1:c.620C>G ENSP00000502387.1:p.Ser207Ter
ENST00000675793.1:c.620C>G ENSP00000502039.1:p.Ser207Ter
ENST00000676056.1:c.620C>G ENSP00000501827.1:p.Ser207Ter
ENST00000676367.1:n.236C>G