Canonical Allele Identifier: CA595453625

Gene: ABCC2

Linked Data

• dbSNP Id: rs1486601032
• gnomAD v2: 10-101604415-TACC-T
• MyVariant Identifiers: chr10:g.101604416_101604418del (hg19) ; chr10:g.99844659_99844661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844659_99844661del , CM000672.2:g.99844659_99844661del	GRCh38
NC_000010.10:g.101604416_101604418del , CM000672.1:g.101604416_101604418del	GRCh37
NC_000010.9:g.101594406_101594408del	NCBI36
NG_011798.1:g.66954_66956del
NG_011798.2:g.67062_67064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987+194_3987+196del MANE Select	ENSP00000497274.1:n.3987+194_3987+196del
ENST00000649459.1:n.335+194_335+196del
ENST00000370449.8:c.3987+194_3987+196del	ENSP00000359478.4:n.3987+194_3987+196del
NM_000392.4:c.3987+194_3987+196del	NP_000383.1:n.3987+194_3987+196del
XM_006717630.2:c.3291+194_3291+196del	XP_006717693.1:n.3291+194_3291+196del
XR_945604.1:n.4176+194_4176+196del
XR_945605.1:n.4051+194_4051+196del
NM_000392.5:c.3987+194_3987+196del MANE Select	NP_000383.2:n.3987+194_3987+196del
XM_006717630.3:c.3291+194_3291+196del	XP_006717693.1:n.3291+194_3291+196del
XR_945604.3:n.4230+194_4230+196del
XR_945605.3:n.4103+194_4103+196del