Canonical Allele Identifier: CA378127657

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101604222G>C (hg19) ; chr10:g.99844465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844465G>C , CM000672.2:g.99844465G>C	GRCh38
NC_000010.10:g.101604222G>C , CM000672.1:g.101604222G>C	GRCh37
NC_000010.9:g.101594212G>C	NCBI36
NG_011798.1:g.66760G>C
NG_011798.2:g.66868G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987G>C MANE Select	ENSP00000497274.1:p.Lys1329Asn
ENST00000649459.1:n.335G>C
ENST00000370449.8:c.3987G>C	ENSP00000359478.4:p.Lys1329Asn
NM_000392.4:c.3987G>C	NP_000383.1:p.Lys1329Asn
XM_006717630.2:c.3291G>C	XP_006717693.1:p.Lys1097Asn
XR_945604.1:n.4176G>C
XR_945605.1:n.4051G>C
NM_000392.5:c.3987G>C MANE Select	NP_000383.2:p.Lys1329Asn
XM_006717630.3:c.3291G>C	XP_006717693.1:p.Lys1097Asn
XR_945604.3:n.4230G>C
XR_945605.3:n.4103G>C