Canonical Allele Identifier: CA9754425

Gene: PROKR2

Linked Data

• dbSNP Id: rs548595273
• ExAC: 20:5294876 C / G
• gnomAD v2: 20-5294876-C-G
• gnomAD v3: 20-5314230-C-G
• gnomAD v4: 20-5314230-C-G
• MyVariant Identifiers: chr20:g.5294876C>G (hg19) ; chr20:g.5314230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314230C>G , CM000682.2:g.5314230C>G	GRCh38
NC_000020.10:g.5294876C>G , CM000682.1:g.5294876C>G	GRCh37
NC_000020.9:g.5242876C>G	NCBI36
NG_008132.1:g.5140G>C
NG_008132.2:g.5140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.140G>C	ENSP00000217270.3:p.Arg47Pro
ENST00000678059.1:c.32G>C	ENSP00000503366.1:p.Arg11Pro
ENST00000678254.1:c.140G>C MANE Select	ENSP00000504128.1:p.Arg47Pro
ENST00000217270.3:c.140G>C	ENSP00000217270.3:p.Arg47Pro
NM_144773.2:c.140G>C	NP_658986.1:p.Arg47Pro
XM_005260663.2:c.140G>C	XP_005260720.1:p.Arg47Pro
XM_011529159.1:c.32G>C	XP_011527461.1:p.Arg11Pro
NM_144773.3:c.140G>C	NP_658986.1:p.Arg47Pro
XM_017027646.1:c.140G>C	XP_016883135.1:p.Arg47Pro
NM_144773.4:c.140G>C MANE Select	NP_658986.1:p.Arg47Pro