Canonical Allele Identifier: CA5643981

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 287346
• ClinVar RCV Id: RCV000322326 ; RCV000350050
• dbSNP Id: rs143990242
• ExAC: 10:101604123 C / G
• gnomAD v2: 10-101604123-C-G
• gnomAD v3: 10-99844366-C-G
• gnomAD v4: 10-99844366-C-G
• MyVariant Identifiers: chr10:g.101604123C>G (hg19) ; chr10:g.99844366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844366C>G , CM000672.2:g.99844366C>G	GRCh38
NC_000010.10:g.101604123C>G , CM000672.1:g.101604123C>G	GRCh37
NC_000010.9:g.101594113C>G	NCBI36
NG_011798.1:g.66661C>G
NG_011798.2:g.66769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3888C>G MANE Select	ENSP00000497274.1:p.Ser1296Arg
ENST00000649459.1:n.236C>G
ENST00000370449.8:c.3888C>G	ENSP00000359478.4:p.Ser1296Arg
NM_000392.4:c.3888C>G	NP_000383.1:p.Ser1296Arg
XM_006717630.2:c.3192C>G	XP_006717693.1:p.Ser1064Arg
XR_945604.1:n.4077C>G
XR_945605.1:n.3952C>G
NM_000392.5:c.3888C>G MANE Select	NP_000383.2:p.Ser1296Arg
XM_006717630.3:c.3192C>G	XP_006717693.1:p.Ser1064Arg
XR_945604.3:n.4131C>G
XR_945605.3:n.4004C>G