Canonical Allele Identifier: CA378116763
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99817410G>C , CM000672.2:g.99817410G>C GRCh38
NC_000010.10:g.101577167G>C , CM000672.1:g.101577167G>C GRCh37
NC_000010.9:g.101567157G>C NCBI36
NG_011798.1:g.39705G>C
NG_011798.2:g.39813G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2197G>C MANE Select ENSP00000497274.1:p.Val733Leu
ENST00000370449.8:c.2197G>C ENSP00000359478.4:p.Val733Leu
NM_000392.4:c.2197G>C NP_000383.1:p.Val733Leu
XM_006717630.2:c.1501G>C XP_006717693.1:p.Val501Leu
XM_006717631.2:c.2197G>C XP_006717694.1:p.Val733Leu
XM_011539291.1:c.2197G>C XP_011537593.1:p.Val733Leu
XR_945604.1:n.2386G>C
XR_945605.1:n.2388G>C
NM_000392.5:c.2197G>C MANE Select NP_000383.2:p.Val733Leu
XM_006717630.3:c.1501G>C XP_006717693.1:p.Val501Leu
XM_006717631.4:c.2197G>C XP_006717694.1:p.Val733Leu
XM_011539291.3:c.2197G>C XP_011537593.1:p.Val733Leu
XM_017015675.2:c.2197G>C XP_016871164.1:p.Val733Leu
XR_945604.3:n.2440G>C
XR_945605.3:n.2440G>C