Canonical Allele Identifier: CA357619733

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967985G>T (hg19) ; chr4:g.88046833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046833G>T , CM000666.2:g.88046833G>T	GRCh38
NC_000004.11:g.88967985G>T , CM000666.1:g.88967985G>T	GRCh37
NC_000004.10:g.89187009G>T	NCBI36
NG_008604.1:g.44166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1511G>T MANE Select	ENSP00000237596.2:p.Arg504Met
ENST00000237596.6:c.1511G>T	ENSP00000237596.2:p.Arg504Met
ENST00000508588.5:c.-199+3376G>T	ENSP00000427131.1:n.-199+3376G>T
NM_000297.3:c.1511G>T	NP_000288.1:p.Arg504Met
XM_011532028.1:c.1286G>T	XP_011530330.1:p.Arg429Met
XM_011532029.1:c.791G>T	XP_011530331.1:p.Arg264Met
XM_011532030.1:c.671G>T	XP_011530332.1:p.Arg224Met
XR_244632.2:n.1606G>T
NR_156488.1:n.1598G>T
XM_011532028.2:c.1286G>T	XP_011530330.1:p.Arg429Met
XM_011532030.2:c.671G>T	XP_011530332.1:p.Arg224Met
NM_000297.4:c.1511G>T MANE Select	NP_000288.1:p.Arg504Met
NR_156488.2:n.1610G>T