Canonical Allele Identifier: CA212867385

Gene: ABCC2

Linked Data

• dbSNP Id: rs376511642
• gnomAD v2: 10-101604402-G-GATCACACAGACTTACCGC
• gnomAD v3: 10-99844645-G-GATCACACAGACTTACCGC
• gnomAD v4: 10-99844645-G-GATCACACAGACTTACCGC
• MyVariant Identifiers: chr10:g.101604402_101604403insATCACACAGACTTACCGC (hg19) ; chr10:g.99844645_99844646insATCACACAGACTTACCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844647_99844664dup , CM000672.2:g.99844647_99844664dup	GRCh38
NC_000010.10:g.101604404_101604421dup , CM000672.1:g.101604404_101604421dup	GRCh37
NC_000010.9:g.101594394_101594411dup	NCBI36
NG_011798.1:g.66942_66959dup
NG_011798.2:g.67050_67067dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987+182_3987+199dup MANE Select	ENSP00000497274.1:n.3987+182_3987+199dup
ENST00000649459.1:n.335+182_335+199dup
ENST00000370449.8:c.3987+182_3987+199dup	ENSP00000359478.4:n.3987+182_3987+199dup
NM_000392.4:c.3987+182_3987+199dup	NP_000383.1:n.3987+182_3987+199dup
XM_006717630.2:c.3291+182_3291+199dup	XP_006717693.1:n.3291+182_3291+199dup
XR_945604.1:n.4176+182_4176+199dup
XR_945605.1:n.4051+182_4051+199dup
NM_000392.5:c.3987+182_3987+199dup MANE Select	NP_000383.2:n.3987+182_3987+199dup
XM_006717630.3:c.3291+182_3291+199dup	XP_006717693.1:n.3291+182_3291+199dup
XR_945604.3:n.4230+182_4230+199dup
XR_945605.3:n.4103+182_4103+199dup