Canonical Allele Identifier: CA378120742

Gene: ABCC2

Linked Data

• dbSNP Id: rs1478891387
• gnomAD v2: 10-101590142-C-T
• gnomAD v3: 10-99830385-C-T
• gnomAD v4: 10-99830385-C-T
• MyVariant Identifiers: chr10:g.101590142C>T (hg19) ; chr10:g.99830385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830385C>T , CM000672.2:g.99830385C>T	GRCh38
NC_000010.10:g.101590142C>T , CM000672.1:g.101590142C>T	GRCh37
NC_000010.9:g.101580132C>T	NCBI36
NG_011798.1:g.52680C>T
NG_011798.2:g.52788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2699C>T MANE Select	ENSP00000497274.1:p.Ser900Phe
ENST00000370449.8:c.2699C>T	ENSP00000359478.4:p.Ser900Phe
NM_000392.4:c.2699C>T	NP_000383.1:p.Ser900Phe
XM_006717630.2:c.2003C>T	XP_006717693.1:p.Ser668Phe
XM_006717631.2:c.*126C>T	XP_006717694.1:n.*126C>T
XM_011539291.1:c.2699C>T	XP_011537593.1:p.Ser900Phe
XR_945604.1:n.2888C>T
XR_945605.1:n.2890C>T
NM_000392.5:c.2699C>T MANE Select	NP_000383.2:p.Ser900Phe
XM_006717630.3:c.2003C>T	XP_006717693.1:p.Ser668Phe
XM_006717631.4:c.*126C>T	XP_006717694.1:n.*126C>T
XM_011539291.3:c.2699C>T	XP_011537593.1:p.Ser900Phe
XR_945604.3:n.2942C>T
XR_945605.3:n.2942C>T