Canonical Allele Identifier: CA5644033

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 298473
• ClinVar RCV Id: RCV000297651 ; RCV000962045 ; RCV003920218
• dbSNP Id: rs7899457
• ExAC: 10:101605503 C / T
• gnomAD v2: 10-101605503-C-T
• gnomAD v3: 10-99845746-C-T
• gnomAD v4: 10-99845746-C-T
• MyVariant Identifiers: chr10:g.101605503C>T (hg19) ; chr10:g.99845746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845746C>T , CM000672.2:g.99845746C>T	GRCh38
NC_000010.10:g.101605503C>T , CM000672.1:g.101605503C>T	GRCh37
NC_000010.9:g.101595493C>T	NCBI36
NG_011798.1:g.68041C>T
NG_011798.2:g.68149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4110C>T MANE Select	ENSP00000497274.1:p.Leu1370=
ENST00000649459.1:n.458C>T
ENST00000370449.8:c.4110C>T	ENSP00000359478.4:p.Leu1370=
NM_000392.4:c.4110C>T	NP_000383.1:p.Leu1370=
XM_006717630.2:c.3414C>T	XP_006717693.1:p.Leu1138=
XR_945604.1:n.4240C>T
XR_945605.1:n.4174C>T
NM_000392.5:c.4110C>T MANE Select	NP_000383.2:p.Leu1370=
XM_006717630.3:c.3414C>T	XP_006717693.1:p.Leu1138=
XR_945604.3:n.4294C>T
XR_945605.3:n.4226C>T