Canonical Allele Identifier: CA348401823

Gene: PROC

Linked Data

• ClinVar Variation Id: 1423677
• ClinVar RCV Id: RCV001929009
• dbSNP Id: rs2104970575
• MyVariant Identifiers: chr2:g.128183802A>G (hg19) ; chr2:g.127426226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426226A>G , CM000664.2:g.127426226A>G	GRCh38
NC_000002.11:g.128183802A>G , CM000664.1:g.128183802A>G	GRCh37
NC_000002.10:g.127900272A>G	NCBI36
NG_016323.1:g.12807A>G , LRG_599:g.12807A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.677A>G MANE Select	ENSP00000234071.4:p.Gln226Arg
ENST00000234071.7:c.677A>G	ENSP00000234071.3:p.Gln226Arg
ENST00000402125.2:c.121-2131A>G
ENST00000409048.1:c.779A>G	ENSP00000386679.1:p.Gln260Arg
ENST00000464089.1:n.263A>G
NM_000312.3:c.677A>G , LRG_599t1:c.677A>G	NP_000303.1:p.Gln226Arg
XM_005263715.3:c.860A>G	XP_005263772.1:p.Gln287Arg
XM_005263716.3:c.842A>G	XP_005263773.1:p.Gln281Arg
XM_005263717.3:c.740A>G	XP_005263774.1:p.Gln247Arg
XM_005263717.4:c.740A>G	XP_005263774.1:p.Gln247Arg
XM_017004505.1:c.920A>G	XP_016859994.1:p.Gln307Arg
XM_024453002.1:c.1022A>G	XP_024308770.1:p.Gln341Arg
XM_024453003.1:c.962A>G	XP_024308771.1:p.Gln321Arg
XM_024453004.1:c.860A>G	XP_024308772.1:p.Gln287Arg
XM_024453005.1:c.842A>G	XP_024308773.1:p.Gln281Arg
XM_024453006.1:c.779A>G	XP_024308774.1:p.Gln260Arg
XR_923313.2:n.4359T>C
NM_000312.4:c.677A>G MANE Select	NP_000303.1:p.Gln226Arg
NM_001375602.1:c.860A>G	NP_001362531.1:p.Gln287Arg
NM_001375603.1:c.842A>G	NP_001362532.1:p.Gln281Arg
NM_001375604.1:c.740A>G	NP_001362533.1:p.Gln247Arg
NM_001375605.1:c.779A>G	NP_001362534.1:p.Gln260Arg
NM_001375606.1:c.845A>G	NP_001362535.1:p.Gln282Arg
NM_001375607.1:c.863A>G	NP_001362536.1:p.Gln288Arg
NM_001375608.1:c.620A>G	NP_001362537.1:p.Gln207Arg
NM_001375609.1:c.653A>G	NP_001362538.1:p.Gln218Arg
NM_001375610.1:c.671A>G	NP_001362539.1:p.Gln224Arg
NM_001375611.1:c.677A>G	NP_001362540.1:p.Gln226Arg
NM_001375613.1:c.677A>G	NP_001362542.1:p.Gln226Arg