Canonical Allele Identifier: CA378124308

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99836104-C-G
• MyVariant Identifiers: chr10:g.101595861C>G (hg19) ; chr10:g.99836104C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836104C>G , CM000672.2:g.99836104C>G	GRCh38
NC_000010.10:g.101595861C>G , CM000672.1:g.101595861C>G	GRCh37
NC_000010.9:g.101585851C>G	NCBI36
NG_011798.1:g.58399C>G
NG_011798.2:g.58507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3428C>G MANE Select	ENSP00000497274.1:p.Ser1143Cys
ENST00000370449.8:c.3428C>G	ENSP00000359478.4:p.Ser1143Cys
NM_000392.4:c.3428C>G	NP_000383.1:p.Ser1143Cys
XM_006717630.2:c.2732C>G	XP_006717693.1:p.Ser911Cys
XR_945604.1:n.3617C>G
XR_945605.1:n.3619C>G
NM_000392.5:c.3428C>G MANE Select	NP_000383.2:p.Ser1143Cys
XM_006717630.3:c.2732C>G	XP_006717693.1:p.Ser911Cys
XR_945604.3:n.3671C>G
XR_945605.3:n.3671C>G