Canonical Allele Identifier: CA378128363

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99845744-C-T
• MyVariant Identifiers: chr10:g.101605501C>T (hg19) ; chr10:g.99845744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845744C>T , CM000672.2:g.99845744C>T	GRCh38
NC_000010.10:g.101605501C>T , CM000672.1:g.101605501C>T	GRCh37
NC_000010.9:g.101595491C>T	NCBI36
NG_011798.1:g.68039C>T
NG_011798.2:g.68147C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4108C>T MANE Select	ENSP00000497274.1:p.Leu1370Phe
ENST00000649459.1:n.456C>T
ENST00000370449.8:c.4108C>T	ENSP00000359478.4:p.Leu1370Phe
NM_000392.4:c.4108C>T	NP_000383.1:p.Leu1370Phe
XM_006717630.2:c.3412C>T	XP_006717693.1:p.Leu1138Phe
XR_945604.1:n.4238C>T
XR_945605.1:n.4172C>T
NM_000392.5:c.4108C>T MANE Select	NP_000383.2:p.Leu1370Phe
XM_006717630.3:c.3412C>T	XP_006717693.1:p.Leu1138Phe
XR_945604.3:n.4292C>T
XR_945605.3:n.4224C>T