Canonical Allele Identifier: CA378120311

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99830309-C-T
• MyVariant Identifiers: chr10:g.101590066C>T (hg19) ; chr10:g.99830309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830309C>T , CM000672.2:g.99830309C>T	GRCh38
NC_000010.10:g.101590066C>T , CM000672.1:g.101590066C>T	GRCh37
NC_000010.9:g.101580056C>T	NCBI36
NG_011798.1:g.52604C>T
NG_011798.2:g.52712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2623C>T MANE Select	ENSP00000497274.1:p.His875Tyr
ENST00000370449.8:c.2623C>T	ENSP00000359478.4:p.His875Tyr
NM_000392.4:c.2623C>T	NP_000383.1:p.His875Tyr
XM_006717630.2:c.1927C>T	XP_006717693.1:p.His643Tyr
XM_006717631.2:c.*50C>T	XP_006717694.1:n.*50C>T
XM_011539291.1:c.2623C>T	XP_011537593.1:p.His875Tyr
XR_945604.1:n.2812C>T
XR_945605.1:n.2814C>T
NM_000392.5:c.2623C>T MANE Select	NP_000383.2:p.His875Tyr
XM_006717630.3:c.1927C>T	XP_006717693.1:p.His643Tyr
XM_006717631.4:c.*50C>T	XP_006717694.1:n.*50C>T
XM_011539291.3:c.2623C>T	XP_011537593.1:p.His875Tyr
XR_945604.3:n.2866C>T
XR_945605.3:n.2866C>T