Canonical Allele Identifier: CA6909661
Community Standard Title: NM_000231.3(SGCG):c.385+2T>C
Gene: SGCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23250719T>C , CM000675.2:g.23250719T>C GRCh38
NC_000013.10:g.23824858T>C , CM000675.1:g.23824858T>C GRCh37
NC_000013.9:g.22722858T>C NCBI36
NG_008759.1:g.74799T>C , LRG_207:g.74799T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000231.3:c.385+2T>C MANE Select NP_000222.2:n.385+2T>C
ENST00000218867.4:c.385+2T>C MANE Select ENSP00000218867.3:n.385+2T>C
NM_000231.2:c.385+2T>C , LRG_207t1:c.385+2T>C NP_000222.1:n.385+2T>C
NM_001378244.1:c.439+2T>C NP_001365173.1:n.439+2T>C
NM_001378245.1:c.385+2T>C NP_001365174.1:n.385+2T>C
NM_001378246.1:c.385+2T>C NP_001365175.1:n.385+2T>C
ENST00000218867.3:c.385+2T>C ENSP00000218867.3:n.385+2T>C
XM_005266505.2:c.385+2T>C XP_005266562.1:n.385+2T>C
XM_006719861.2:c.439+2T>C XP_006719924.1:n.439+2T>C
XM_006719861.3:c.439+2T>C XP_006719924.1:n.439+2T>C
XM_024449397.1:c.385+2T>C XP_024305165.1:n.385+2T>C