Canonical Allele Identifier: CA352894832
Gene: GNAI2 HGNC NCBI

Linked Data

dbSNP Id: rs199645073
gnomAD v2: 3-50293633-C-G
gnomAD v3: 3-50256201-C-G
gnomAD v4: 3-50256201-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50256201C>G , CM000665.2:g.50256201C>G GRCh38
NC_000003.11:g.50293633C>G , CM000665.1:g.50293633C>G GRCh37
NC_000003.10:g.50268637C>G NCBI36
NG_016002.2:g.34514C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313601.11:c.474C>G MANE Select ENSP00000312999.6:p.Asn158Lys
ENST00000266027.9:c.318C>G ENSP00000266027.6:p.Asn106Lys
ENST00000313601.10:c.474C>G ENSP00000312999.6:p.Asn158Lys
ENST00000422163.5:c.426C>G ENSP00000406871.1:p.Asn142Lys
ENST00000440628.5:c.318C>G ENSP00000395736.1:p.Asn106Lys
ENST00000441156.5:c.*2C>G ENSP00000394321.1:n.*2C>G
ENST00000446079.5:c.*109C>G ENSP00000406065.1:n.*109C>G
ENST00000451956.1:c.363C>G ENSP00000406369.1:p.Asn121Lys
ENST00000468422.1:n.41C>G
ENST00000490122.5:n.1301C>G
ENST00000491100.5:n.2290C>G
NM_001166425.1:c.363C>G NP_001159897.1:p.Asn121Lys
NM_001282617.1:c.318C>G NP_001269546.1:p.Asn106Lys
NM_001282618.1:c.231C>G NP_001269547.1:p.Asn77Lys
NM_001282619.1:c.426C>G NP_001269548.1:p.Asn142Lys
NM_001282620.1:c.426C>G NP_001269549.1:p.Asn142Lys
NM_002070.3:c.474C>G NP_002061.1:p.Asn158Lys
NM_002070.4:c.474C>G MANE Select NP_002061.1:p.Asn158Lys
NM_001166425.2:c.363C>G NP_001159897.1:p.Asn121Lys
NM_001282618.2:c.231C>G NP_001269547.1:p.Asn77Lys
NM_001282619.2:c.426C>G NP_001269548.1:p.Asn142Lys
NM_001282620.2:c.426C>G NP_001269549.1:p.Asn142Lys
NM_001282617.2:c.318C>G NP_001269546.1:p.Asn106Lys