Canonical Allele Identifier: CA670634935

Gene: ABCC2

Linked Data

• dbSNP Id: rs1265510575
• gnomAD v3: 10-99836430-GAAGA-G
• gnomAD v4: 10-99836430-GAAGA-G
• MyVariant Identifiers: chr10:g.101596188_101596191del (hg19) ; chr10:g.99836431_99836434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836434_99836437del , CM000672.2:g.99836434_99836437del	GRCh38
NC_000010.10:g.101596191_101596194del , CM000672.1:g.101596191_101596194del	GRCh37
NC_000010.9:g.101586181_101586184del	NCBI36
NG_011798.1:g.58729_58732del
NG_011798.2:g.58837_58840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3614+144_3614+147del MANE Select	ENSP00000497274.1:n.3614+144_3614+147del
ENST00000370449.8:c.3614+144_3614+147del	ENSP00000359478.4:n.3614+144_3614+147del
NM_000392.4:c.3614+144_3614+147del	NP_000383.1:n.3614+144_3614+147del
XM_006717630.2:c.2918+144_2918+147del	XP_006717693.1:n.2918+144_2918+147del
XR_945604.1:n.3803+144_3803+147del
XR_945605.1:n.3805+144_3805+147del
NM_000392.5:c.3614+144_3614+147del MANE Select	NP_000383.2:n.3614+144_3614+147del
XM_006717630.3:c.2918+144_2918+147del	XP_006717693.1:n.2918+144_2918+147del
XR_945604.3:n.3857+144_3857+147del
XR_945605.3:n.3857+144_3857+147del