Canonical Allele Identifier: CA5643864
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs766602484
ExAC: 10:101596050 G / A
gnomAD v2: 10-101596050-G-A
gnomAD v3: 10-99836293-G-A
gnomAD v4: 10-99836293-G-A
MyVariant Identifiers: chr10:g.101596050G>A (hg19) chr10:g.99836293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836293G>A , CM000672.2:g.99836293G>A GRCh38
NC_000010.10:g.101596050G>A , CM000672.1:g.101596050G>A GRCh37
NC_000010.9:g.101586040G>A NCBI36
NG_011798.1:g.58588G>A
NG_011798.2:g.58696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3614+3G>A MANE Select ENSP00000497274.1:n.3614+3G>A
ENST00000370449.8:c.3614+3G>A ENSP00000359478.4:n.3614+3G>A
NM_000392.4:c.3614+3G>A NP_000383.1:n.3614+3G>A
XM_006717630.2:c.2918+3G>A XP_006717693.1:n.2918+3G>A
XR_945604.1:n.3803+3G>A
XR_945605.1:n.3805+3G>A
NM_000392.5:c.3614+3G>A MANE Select NP_000383.2:n.3614+3G>A
XM_006717630.3:c.2918+3G>A XP_006717693.1:n.2918+3G>A
XR_945604.3:n.3857+3G>A
XR_945605.3:n.3857+3G>A
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