Canonical Allele Identifier: CA378126732
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99844367-A-C
MyVariant Identifiers: chr10:g.101604124A>C (hg19) chr10:g.99844367A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844367A>C , CM000672.2:g.99844367A>C GRCh38
NC_000010.10:g.101604124A>C , CM000672.1:g.101604124A>C GRCh37
NC_000010.9:g.101594114A>C NCBI36
NG_011798.1:g.66662A>C
NG_011798.2:g.66770A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3889A>C MANE Select ENSP00000497274.1:p.Lys1297Gln
ENST00000649459.1:n.237A>C
ENST00000370449.8:c.3889A>C ENSP00000359478.4:p.Lys1297Gln
NM_000392.4:c.3889A>C NP_000383.1:p.Lys1297Gln
XM_006717630.2:c.3193A>C XP_006717693.1:p.Lys1065Gln
XR_945604.1:n.4078A>C
XR_945605.1:n.3953A>C
NM_000392.5:c.3889A>C MANE Select NP_000383.2:p.Lys1297Gln
XM_006717630.3:c.3193A>C XP_006717693.1:p.Lys1065Gln
XR_945604.3:n.4132A>C
XR_945605.3:n.4005A>C
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