Canonical Allele Identifier: CA357618553

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967826T>C (hg19) ; chr4:g.88046674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046674T>C , CM000666.2:g.88046674T>C	GRCh38
NC_000004.11:g.88967826T>C , CM000666.1:g.88967826T>C	GRCh37
NC_000004.10:g.89186850T>C	NCBI36
NG_008604.1:g.44007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1352T>C MANE Select	ENSP00000237596.2:p.Val451Ala
ENST00000237596.6:c.1352T>C	ENSP00000237596.2:p.Val451Ala
ENST00000508588.5:c.-199+3217T>C	ENSP00000427131.1:n.-199+3217T>C
NM_000297.3:c.1352T>C	NP_000288.1:p.Val451Ala
XM_011532028.1:c.1127T>C	XP_011530330.1:p.Val376Ala
XM_011532029.1:c.632T>C	XP_011530331.1:p.Val211Ala
XM_011532030.1:c.512T>C	XP_011530332.1:p.Val171Ala
XR_244632.2:n.1447T>C
NR_156488.1:n.1439T>C
XM_011532028.2:c.1127T>C	XP_011530330.1:p.Val376Ala
XM_011532030.2:c.512T>C	XP_011530332.1:p.Val171Ala
NM_000297.4:c.1352T>C MANE Select	NP_000288.1:p.Val451Ala
NR_156488.2:n.1451T>C