Canonical Allele Identifier: CA931730385

Gene: ABCC2

Linked Data

• dbSNP Id: rs2038465979
• gnomAD v3: 10-99818643-GTTC-G
• gnomAD v4: 10-99818643-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99818646_99818648del , CM000672.2:g.99818646_99818648del	GRCh38
NC_000010.10:g.101578403_101578405del , CM000672.1:g.101578403_101578405del	GRCh37
NC_000010.9:g.101568393_101568395del	NCBI36
NG_011798.1:g.40941_40943del
NG_011798.2:g.41049_41051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2272-144_2272-142del MANE Select	ENSP00000497274.1:n.2272-144_2272-142del
ENST00000370449.8:c.2272-144_2272-142del	ENSP00000359478.4:n.2272-144_2272-142del
NM_000392.4:c.2272-144_2272-142del	NP_000383.1:n.2272-144_2272-142del
XM_006717630.2:c.1576-144_1576-142del	XP_006717693.1:n.1576-144_1576-142del
XM_006717631.2:c.2272-144_2272-142del	XP_006717694.1:n.2272-144_2272-142del
XM_011539291.1:c.2272-144_2272-142del	XP_011537593.1:n.2272-144_2272-142del
XR_945604.1:n.2461-144_2461-142del
XR_945605.1:n.2463-144_2463-142del
NM_000392.5:c.2272-144_2272-142del MANE Select	NP_000383.2:n.2272-144_2272-142del
XM_006717630.3:c.1576-144_1576-142del	XP_006717693.1:n.1576-144_1576-142del
XM_006717631.4:c.2272-144_2272-142del	XP_006717694.1:n.2272-144_2272-142del
XM_011539291.3:c.2272-144_2272-142del	XP_011537593.1:n.2272-144_2272-142del
XM_017015675.2:c.2272-144_2272-142del	XP_016871164.1:n.2272-144_2272-142del
XR_945604.3:n.2515-144_2515-142del
XR_945605.3:n.2515-144_2515-142del