Canonical Allele Identifier: CA2610497719

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99844322-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844324_99844325del , CM000672.2:g.99844324_99844325del	GRCh38
NC_000010.10:g.101604081_101604082del , CM000672.1:g.101604081_101604082del	GRCh37
NC_000010.9:g.101594071_101594072del	NCBI36
NG_011798.1:g.66619_66620del
NG_011798.2:g.66727_66728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3846_3847del MANE Select	ENSP00000497274.1:p.Pro1283LeufsTer4
ENST00000649459.1:n.194_195del
ENST00000370449.8:c.3846_3847del	ENSP00000359478.4:p.Pro1283LeufsTer4
NM_000392.4:c.3846_3847del	NP_000383.1:p.Pro1283LeufsTer4
XM_006717630.2:c.3150_3151del	XP_006717693.1:p.Pro1051LeufsTer4
XR_945604.1:n.4035_4036del
XR_945605.1:n.3910_3911del
NM_000392.5:c.3846_3847del MANE Select	NP_000383.2:p.Pro1283LeufsTer4
XM_006717630.3:c.3150_3151del	XP_006717693.1:p.Pro1051LeufsTer4
XR_945604.3:n.4089_4090del
XR_945605.3:n.3962_3963del