Canonical Allele Identifier: CA1931440996
Community Standard Title: NM_000392.5(ABCC2):c.1249G= (p.Val417=)
Gene: ABCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99804058G= , CM000672.2:g.99804058G= GRCh38
NC_000010.10:g.101563815G= , CM000672.1:g.101563815G= GRCh37
NC_000010.9:g.101553805G= NCBI36
NG_011798.1:g.26353G=
NG_011798.2:g.26461G=

Transcript Alleles

HGVS Amino-acid Change
NM_000392.5:c.1249G= MANE Select NP_000383.2:p.Val417=
ENST00000647814.1:c.1249G= MANE Select ENSP00000497274.1:p.Val417=
NM_000392.4:c.1249G= NP_000383.1:p.Val417=
ENST00000370449.8:c.1249G= ENSP00000359478.4:p.Val417=
XM_006717630.2:c.553G= XP_006717693.1:p.Val185=
XM_006717630.3:c.553G= XP_006717693.1:p.Val185=
XM_006717631.2:c.1249G= XP_006717694.1:p.Val417=
XM_006717631.4:c.1249G= XP_006717694.1:p.Val417=
XM_011539291.1:c.1249G= XP_011537593.1:p.Val417=
XM_011539291.3:c.1249G= XP_011537593.1:p.Val417=
XM_017015675.2:c.1249G= XP_016871164.1:p.Val417=
XR_945604.1:n.1438G=
XR_945604.3:n.1492G=
XR_945605.1:n.1440G=
XR_945605.3:n.1492G=