Canonical Allele Identifier: CA5643841

Gene: ABCC2

Linked Data

• dbSNP Id: rs767647736
• ExAC: 10:101595974 CGATTTCTGAAACACAATGAGGT / C
• gnomAD v2: 10-101595974-CGATTTCTGAAACACAATGAGGT-C
• gnomAD v3: 10-99836217-CGATTTCTGAAACACAATGAGGT-C
• gnomAD v4: 10-99836217-CGATTTCTGAAACACAATGAGGT-C
• MyVariant Identifiers: chr10:g.101595975_101595996del (hg19) ; chr10:g.99836218_99836239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836220_99836241del , CM000672.2:g.99836220_99836241del	GRCh38
NC_000010.10:g.101595977_101595998del , CM000672.1:g.101595977_101595998del	GRCh37
NC_000010.9:g.101585967_101585988del	NCBI36
NG_011798.1:g.58515_58536del
NG_011798.2:g.58623_58644del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3544_3565del MANE Select	ENSP00000497274.1:p.Phe1182GlyfsTer29
ENST00000370449.8:c.3544_3565del	ENSP00000359478.4:p.Phe1182GlyfsTer29
NM_000392.4:c.3544_3565del	NP_000383.1:p.Phe1182GlyfsTer29
XM_006717630.2:c.2848_2869del	XP_006717693.1:p.Phe950GlyfsTer29
XR_945604.1:n.3733_3754del
XR_945605.1:n.3735_3756del
NM_000392.5:c.3544_3565del MANE Select	NP_000383.2:p.Phe1182GlyfsTer29
XM_006717630.3:c.2848_2869del	XP_006717693.1:p.Phe950GlyfsTer29
XR_945604.3:n.3787_3808del
XR_945605.3:n.3787_3808del