Canonical Allele Identifier: CA1003478863
Gene: GIPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1661928711
gnomAD v3: 1-78086423-T-C
gnomAD v4: 1-78086423-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.78086423T>C , CM000663.2:g.78086423T>C GRCh38
NC_000001.10:g.78552107T>C , CM000663.1:g.78552107T>C GRCh37
NC_000001.9:g.78324695T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370759.4:c.426+5563T>C MANE Select ENSP00000359795.3:n.426+5563T>C
ENST00000370759.3:c.426+5563T>C ENSP00000359795.3:n.426+5563T>C
ENST00000476882.1:n.264+5563T>C
NM_001304725.1:c.204+5563T>C NP_001291654.1:n.204+5563T>C
NM_017655.5:c.426+5563T>C NP_060125.4:n.426+5563T>C
XM_011541620.1:c.276+5563T>C XP_011539922.1:n.276+5563T>C
NM_017655.6:c.426+5563T>C MANE Select NP_060125.4:n.426+5563T>C
NM_001304725.2:c.204+5563T>C NP_001291654.1:n.204+5563T>C
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