Canonical Allele Identifier: CA5643860
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3128018
ClinVar RCV Id: RCV004417851
dbSNP Id: rs577353173
ExAC: 10:101596032 G / T
gnomAD v2: 10-101596032-G-T
gnomAD v3: 10-99836275-G-T
gnomAD v4: 10-99836275-G-T
MyVariant Identifiers: chr10:g.101596032G>T (hg19) chr10:g.99836275G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836275G>T , CM000672.2:g.99836275G>T GRCh38
NC_000010.10:g.101596032G>T , CM000672.1:g.101596032G>T GRCh37
NC_000010.9:g.101586022G>T NCBI36
NG_011798.1:g.58570G>T
NG_011798.2:g.58678G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3599G>T MANE Select ENSP00000497274.1:p.Trp1200Leu
ENST00000370449.8:c.3599G>T ENSP00000359478.4:p.Trp1200Leu
NM_000392.4:c.3599G>T NP_000383.1:p.Trp1200Leu
XM_006717630.2:c.2903G>T XP_006717693.1:p.Trp968Leu
XR_945604.1:n.3788G>T
XR_945605.1:n.3790G>T
NM_000392.5:c.3599G>T MANE Select NP_000383.2:p.Trp1200Leu
XM_006717630.3:c.2903G>T XP_006717693.1:p.Trp968Leu
XR_945604.3:n.3842G>T
XR_945605.3:n.3842G>T
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