Canonical Allele Identifier: CA378130502
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1382237404
gnomAD v2: 10-101611260-G-C
gnomAD v3: 10-99851503-G-C
gnomAD v4: 10-99851503-G-C
MyVariant Identifiers: chr10:g.101611260G>C (hg19) chr10:g.99851503G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99851503G>C , CM000672.2:g.99851503G>C GRCh38
NC_000010.10:g.101611260G>C , CM000672.1:g.101611260G>C GRCh37
NC_000010.9:g.101601250G>C NCBI36
NG_011798.1:g.73798G>C
NG_011798.2:g.73906G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.4510G>C MANE Select ENSP00000497274.1:p.Val1504Leu
ENST00000648523.1:c.580G>C
ENST00000370449.8:c.4510G>C ENSP00000359478.4:p.Val1504Leu
NM_000392.4:c.4510G>C NP_000383.1:p.Val1504Leu
XM_006717630.2:c.3814G>C XP_006717693.1:p.Val1272Leu
XR_945605.1:n.4574G>C
NM_000392.5:c.4510G>C MANE Select NP_000383.2:p.Val1504Leu
XM_006717630.3:c.3814G>C XP_006717693.1:p.Val1272Leu
XR_945605.3:n.4626G>C
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