Canonical Allele Identifier: CA1931710339

Gene: PKD2L1

Linked Data

• dbSNP Id: rs1849086995

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100315731C>G , CM000672.2:g.100315731C>G	GRCh38
NC_000010.10:g.102075488C>G , CM000672.1:g.102075488C>G	GRCh37
NC_000010.9:g.102065478C>G	NCBI36
NG_047099.1:g.35794G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318222.4:c.349+13480G>C MANE Select	ENSP00000325296.3:n.349+13480G>C
ENST00000318222.3:c.349+13480G>C	ENSP00000325296.3:n.349+13480G>C
ENST00000465680.2:c.104+14138G>C
ENST00000528248.1:c.208+13480G>C
ENST00000532547.1:c.*93+13480G>C	ENSP00000434224.1:n.*93+13480G>C
NM_001253837.1:c.208+13480G>C	NP_001240766.1:n.208+13480G>C
NM_016112.2:c.349+13480G>C	NP_057196.2:n.349+13480G>C
XM_011540321.1:c.349+13480G>C	XP_011538623.1:n.349+13480G>C
XM_011540322.1:c.349+13480G>C	XP_011538624.1:n.349+13480G>C
XM_011540323.1:c.59-16013G>C	XP_011538625.1:n.59-16013G>C
XM_011540324.1:c.59-16013G>C	XP_011538626.1:n.59-16013G>C
XM_011540325.1:c.-11-16013G>C	XP_011538627.1:n.-11-16013G>C
XR_945861.1:n.622+13480G>C
XM_011540323.3:c.59-16013G>C	XP_011538625.1:n.59-16013G>C
XM_011540325.3:c.-11-16013G>C	XP_011538627.1:n.-11-16013G>C
XM_017016875.2:c.59-16013G>C	XP_016872364.1:n.59-16013G>C
XM_017016876.1:c.101-16013G>C	XP_016872365.1:n.101-16013G>C
NM_016112.3:c.349+13480G>C MANE Select	NP_057196.2:n.349+13480G>C
NM_001253837.2:c.208+13480G>C	NP_001240766.1:n.208+13480G>C