Canonical Allele Identifier: CA5643551

Gene: ABCC2

Linked Data

• dbSNP Id: rs745670308
• ExAC: 10:101590112 G / T
• gnomAD v2: 10-101590112-G-T
• gnomAD v3: 10-99830355-G-T
• gnomAD v4: 10-99830355-G-T
• MyVariant Identifiers: chr10:g.101590112G>T (hg19) ; chr10:g.99830355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830355G>T , CM000672.2:g.99830355G>T	GRCh38
NC_000010.10:g.101590112G>T , CM000672.1:g.101590112G>T	GRCh37
NC_000010.9:g.101580102G>T	NCBI36
NG_011798.1:g.52650G>T
NG_011798.2:g.52758G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2669G>T MANE Select	ENSP00000497274.1:p.Ser890Ile
ENST00000370449.8:c.2669G>T	ENSP00000359478.4:p.Ser890Ile
NM_000392.4:c.2669G>T	NP_000383.1:p.Ser890Ile
XM_006717630.2:c.1973G>T	XP_006717693.1:p.Ser658Ile
XM_006717631.2:c.*96G>T	XP_006717694.1:n.*96G>T
XM_011539291.1:c.2669G>T	XP_011537593.1:p.Ser890Ile
XR_945604.1:n.2858G>T
XR_945605.1:n.2860G>T
NM_000392.5:c.2669G>T MANE Select	NP_000383.2:p.Ser890Ile
XM_006717630.3:c.1973G>T	XP_006717693.1:p.Ser658Ile
XM_006717631.4:c.*96G>T	XP_006717694.1:n.*96G>T
XM_011539291.3:c.2669G>T	XP_011537593.1:p.Ser890Ile
XR_945604.3:n.2912G>T
XR_945605.3:n.2912G>T