Canonical Allele Identifier: CA212848431

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 2893947
• ClinVar RCV Id: RCV003725558
• dbSNP Id: rs986600813
• gnomAD v2: 10-101578582-C-T
• gnomAD v4: 10-99818825-C-T
• COSMIC: COSM3433457
• MyVariant Identifiers: chr10:g.101578582C>T (hg19) ; chr10:g.99818825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99818825C>T , CM000672.2:g.99818825C>T	GRCh38
NC_000010.10:g.101578582C>T , CM000672.1:g.101578582C>T	GRCh37
NC_000010.9:g.101568572C>T	NCBI36
NG_011798.1:g.41120C>T
NG_011798.2:g.41228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2307C>T MANE Select	ENSP00000497274.1:p.Ile769=
ENST00000370449.8:c.2307C>T	ENSP00000359478.4:p.Ile769=
NM_000392.4:c.2307C>T	NP_000383.1:p.Ile769=
XM_006717630.2:c.1611C>T	XP_006717693.1:p.Ile537=
XM_006717631.2:c.2307C>T	XP_006717694.1:p.Ile769=
XM_011539291.1:c.2307C>T	XP_011537593.1:p.Ile769=
XR_945604.1:n.2496C>T
XR_945605.1:n.2498C>T
NM_000392.5:c.2307C>T MANE Select	NP_000383.2:p.Ile769=
XM_006717630.3:c.1611C>T	XP_006717693.1:p.Ile537=
XM_006717631.4:c.2307C>T	XP_006717694.1:p.Ile769=
XM_011539291.3:c.2307C>T	XP_011537593.1:p.Ile769=
XM_017015675.2:c.2307C>T	XP_016871164.1:p.Ile769=
XR_945604.3:n.2550C>T
XR_945605.3:n.2550C>T