Canonical Allele Identifier: CA5642784

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 802627
• ClinVar RCV Id: RCV000988441
• dbSNP Id: rs927344
• ExAC: 10:101544447 A / T
• gnomAD v2: 10-101544447-A-T
• gnomAD v3: 10-99784690-A-T
• gnomAD v4: 10-99784690-A-T
• MyVariant Identifiers: chr10:g.101544447A>T (hg19) ; chr10:g.99784690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99784690A>T , CM000672.2:g.99784690A>T	GRCh38
NC_000010.10:g.101544447A>T , CM000672.1:g.101544447A>T	GRCh37
NC_000010.9:g.101534437A>T	NCBI36
NG_011798.2:g.7093A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.116A>T MANE Select	ENSP00000497274.1:p.Tyr39Phe
ENST00000647836.1:n.321A>T
ENST00000648324.1:c.116A>T	ENSP00000497248.1:p.Tyr39Phe
ENST00000648689.1:c.116A>T	ENSP00000496972.1:p.Tyr39Phe
ENST00000649493.1:c.116A>T	ENSP00000496847.1:p.Tyr39Phe
ENST00000649932.1:c.116A>T	ENSP00000498120.1:p.Tyr39Phe
ENST00000370434.1:c.116A>T	ENSP00000359463.1:p.Tyr39Phe
ENST00000370449.8:c.116A>T	ENSP00000359478.4:p.Tyr39Phe
XM_006717631.2:c.116A>T	XP_006717694.1:p.Tyr39Phe
XM_011539291.1:c.116A>T	XP_011537593.1:p.Tyr39Phe
XR_945604.1:n.305A>T
XR_945605.1:n.307A>T
NM_000392.5:c.116A>T MANE Select	NP_000383.2:p.Tyr39Phe
XM_006717631.4:c.116A>T	XP_006717694.1:p.Tyr39Phe
XM_011539291.3:c.116A>T	XP_011537593.1:p.Tyr39Phe
XM_017015675.2:c.116A>T	XP_016871164.1:p.Tyr39Phe
XR_945604.3:n.359A>T
XR_945605.3:n.359A>T