Canonical Allele Identifier: CA595452598
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1234979723
gnomAD v2: 10-101595738-G-GT
gnomAD v3: 10-99835981-G-GT
gnomAD v4: 10-99835981-G-GT
MyVariant Identifiers: chr10:g.101595738_101595739insT (hg19) chr10:g.99835981_99835982insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99835982dup , CM000672.2:g.99835982dup GRCh38
NC_000010.10:g.101595739dup , CM000672.1:g.101595739dup GRCh37
NC_000010.9:g.101585729dup NCBI36
NG_011798.1:g.58277dup
NG_011798.2:g.58385dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3415-109dup MANE Select ENSP00000497274.1:n.3415-109dup
ENST00000370449.8:c.3415-109dup ENSP00000359478.4:n.3415-109dup
NM_000392.4:c.3415-109dup NP_000383.1:n.3415-109dup
XM_006717630.2:c.2719-109dup XP_006717693.1:n.2719-109dup
XR_945604.1:n.3604-109dup
XR_945605.1:n.3606-109dup
NM_000392.5:c.3415-109dup MANE Select NP_000383.2:n.3415-109dup
XM_006717630.3:c.2719-109dup XP_006717693.1:n.2719-109dup
XR_945604.3:n.3658-109dup
XR_945605.3:n.3658-109dup
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