Canonical Allele Identifier: CA378125113
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 593476
ClinVar RCV Id: RCV000728525
dbSNP Id: rs1235065840
gnomAD v2: 10-101596016-A-G
gnomAD v3: 10-99836259-A-G
gnomAD v4: 10-99836259-A-G
MyVariant Identifiers: chr10:g.101596016A>G (hg19) chr10:g.99836259A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836259A>G , CM000672.2:g.99836259A>G GRCh38
NC_000010.10:g.101596016A>G , CM000672.1:g.101596016A>G GRCh37
NC_000010.9:g.101586006A>G NCBI36
NG_011798.1:g.58554A>G
NG_011798.2:g.58662A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3583A>G MANE Select ENSP00000497274.1:p.Lys1195Glu
ENST00000370449.8:c.3583A>G ENSP00000359478.4:p.Lys1195Glu
NM_000392.4:c.3583A>G NP_000383.1:p.Lys1195Glu
XM_006717630.2:c.2887A>G XP_006717693.1:p.Lys963Glu
XR_945604.1:n.3772A>G
XR_945605.1:n.3774A>G
NM_000392.5:c.3583A>G MANE Select NP_000383.2:p.Lys1195Glu
XM_006717630.3:c.2887A>G XP_006717693.1:p.Lys963Glu
XR_945604.3:n.3826A>G
XR_945605.3:n.3826A>G
Search 100 bp 5'
Search 100 bp 3'