×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA378130499
Gene: ABCC2
HGNC
NCBI
Linked Data
gnomAD v4:
10-99851503-G-A
MyVariant Identifiers:
chr10:g.101611260G>A (hg19)
chr10:g.99851503G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99851503G>A , CM000672.2:g.99851503G>A
GRCh38
NC_000010.10:g.101611260G>A , CM000672.1:g.101611260G>A
GRCh37
NC_000010.9:g.101601250G>A
NCBI36
NG_011798.1:g.73798G>A
NG_011798.2:g.73906G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647814.1:c.4510G>A
MANE Select
ENSP00000497274.1:p.Val1504Ile
ENST00000648523.1:c.580G>A
ENST00000370449.8:c.4510G>A
ENSP00000359478.4:p.Val1504Ile
NM_000392.4:c.4510G>A
NP_000383.1:p.Val1504Ile
XM_006717630.2:c.3814G>A
XP_006717693.1:p.Val1272Ile
XR_945605.1:n.4574G>A
NM_000392.5:c.4510G>A
MANE Select
NP_000383.2:p.Val1504Ile
XM_006717630.3:c.3814G>A
XP_006717693.1:p.Val1272Ile
XR_945605.3:n.4626G>A
Search 100 bp 5'
Search 100 bp 3'