Canonical Allele Identifier: CA5643572

Gene: ABCC2

Linked Data

• dbSNP Id: rs767737672
• ExAC: 10:101590191 GTTGGCTA / G
• gnomAD v2: 10-101590191-GTTGGCTA-G
• gnomAD v4: 10-99830434-GTTGGCTA-G
• MyVariant Identifiers: chr10:g.101590192_101590198del (hg19) ; chr10:g.99830435_99830441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830436_99830442del , CM000672.2:g.99830436_99830442del	GRCh38
NC_000010.10:g.101590193_101590199del , CM000672.1:g.101590193_101590199del	GRCh37
NC_000010.9:g.101580183_101580189del	NCBI36
NG_011798.1:g.52731_52737del
NG_011798.2:g.52839_52845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2747+3_2747+9del MANE Select	ENSP00000497274.1:n.2747+3_2747+9del
ENST00000370449.8:c.2747+3_2747+9del	ENSP00000359478.4:n.2747+3_2747+9del
NM_000392.4:c.2747+3_2747+9del	NP_000383.1:n.2747+3_2747+9del
XM_006717630.2:c.2051+3_2051+9del	XP_006717693.1:n.2051+3_2051+9del
XM_011539291.1:c.2747+3_2747+9del	XP_011537593.1:n.2747+3_2747+9del
XR_945604.1:n.2936+3_2936+9del
XR_945605.1:n.2938+3_2938+9del
NM_000392.5:c.2747+3_2747+9del MANE Select	NP_000383.2:n.2747+3_2747+9del
XM_006717630.3:c.2051+3_2051+9del	XP_006717693.1:n.2051+3_2051+9del
XM_011539291.3:c.2747+3_2747+9del	XP_011537593.1:n.2747+3_2747+9del
XR_945604.3:n.2990+3_2990+9del
XR_945605.3:n.2990+3_2990+9del