Canonical Allele Identifier: CA356877764
Community Standard Title: NM_000232.5(SGCB):c.243+2T>G
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033429A>C , CM000666.2:g.52033429A>C GRCh38
NC_000004.11:g.52899595A>C , CM000666.1:g.52899595A>C GRCh37
NC_000004.10:g.52594352A>C NCBI36
NG_008891.1:g.9891T>G , LRG_204:g.9891T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000232.5:c.243+2T>G MANE Select NP_000223.1:n.243+2T>G
ENST00000381431.10:c.243+2T>G MANE Select ENSP00000370839.6:n.243+2T>G
NM_000232.4:c.243+2T>G , LRG_204t1:c.243+2T>G NP_000223.1:n.243+2T>G
ENST00000381431.9:c.243+2T>G ENSP00000370839.5:n.243+2T>G
ENST00000506357.5:c.229+2T>G
ENST00000514133.1:c.210+2T>G ENSP00000425818.1:n.210+2T>G
XM_006714049.2:c.-165+2T>G XP_006714112.1:n.-165+2T>G
XM_011534403.1:c.34-3566T>G XP_011532705.1:n.34-3566T>G
XM_011534404.1:c.-142+2T>G XP_011532706.1:n.-142+2T>G