Canonical Allele Identifier: CA212862398

Gene: ABCC2

Linked Data

• dbSNP Id: rs957018405
• gnomAD v2: 10-101596170-T-G
• gnomAD v3: 10-99836413-T-G
• gnomAD v4: 10-99836413-T-G
• MyVariant Identifiers: chr10:g.101596170T>G (hg19) ; chr10:g.99836413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836413T>G , CM000672.2:g.99836413T>G	GRCh38
NC_000010.10:g.101596170T>G , CM000672.1:g.101596170T>G	GRCh37
NC_000010.9:g.101586160T>G	NCBI36
NG_011798.1:g.58708T>G
NG_011798.2:g.58816T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3614+123T>G MANE Select	ENSP00000497274.1:n.3614+123T>G
ENST00000370449.8:c.3614+123T>G	ENSP00000359478.4:n.3614+123T>G
NM_000392.4:c.3614+123T>G	NP_000383.1:n.3614+123T>G
XM_006717630.2:c.2918+123T>G	XP_006717693.1:n.2918+123T>G
XR_945604.1:n.3803+123T>G
XR_945605.1:n.3805+123T>G
NM_000392.5:c.3614+123T>G MANE Select	NP_000383.2:n.3614+123T>G
XM_006717630.3:c.2918+123T>G	XP_006717693.1:n.2918+123T>G
XR_945604.3:n.3857+123T>G
XR_945605.3:n.3857+123T>G