Canonical Allele Identifier: CA428873021

Gene: PROC

Linked Data

• ClinVar Variation Id: 1651051
• ClinVar RCV Id: RCV002151498
• dbSNP Id: rs2104983090
• MyVariant Identifiers: chr2:g.128186216C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428640C>G , CM000664.2:g.127428640C>G	GRCh38
NC_000002.11:g.128186216C>G , CM000664.1:g.128186216C>G	GRCh37
NC_000002.10:g.127902686C>G	NCBI36
NG_016323.1:g.15221C>G , LRG_599:g.15221C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1080C>G MANE Select	ENSP00000234071.4:p.Leu360=
ENST00000234071.7:c.1080C>G	ENSP00000234071.3:p.Leu360=
ENST00000402125.2:c.404C>G
ENST00000409048.1:c.1182C>G	ENSP00000386679.1:p.Leu394=
NM_000312.3:c.1080C>G , LRG_599t1:c.1080C>G	NP_000303.1:p.Leu360=
XM_005263715.3:c.1263C>G	XP_005263772.1:p.Leu421=
XM_005263716.3:c.1245C>G	XP_005263773.1:p.Leu415=
XM_005263717.3:c.1143C>G	XP_005263774.1:p.Leu381=
XR_923313.1:n.1332-376G>C
XM_005263717.4:c.1143C>G	XP_005263774.1:p.Leu381=
XM_017004505.1:c.1323C>G	XP_016859994.1:p.Leu441=
XM_024453002.1:c.1425C>G	XP_024308770.1:p.Leu475=
XM_024453003.1:c.1365C>G	XP_024308771.1:p.Leu455=
XM_024453004.1:c.1263C>G	XP_024308772.1:p.Leu421=
XM_024453005.1:c.1245C>G	XP_024308773.1:p.Leu415=
XM_024453006.1:c.1182C>G	XP_024308774.1:p.Leu394=
XR_001739705.1:n.3607-376G>C
XR_923313.2:n.4043-376G>C
NM_000312.4:c.1080C>G MANE Select	NP_000303.1:p.Leu360=
NM_001375602.1:c.1263C>G	NP_001362531.1:p.Leu421=
NM_001375603.1:c.1245C>G	NP_001362532.1:p.Leu415=
NM_001375604.1:c.1143C>G	NP_001362533.1:p.Leu381=
NM_001375605.1:c.1182C>G	NP_001362534.1:p.Leu394=
NM_001375606.1:c.1248C>G	NP_001362535.1:p.Leu416=
NM_001375607.1:c.1266C>G	NP_001362536.1:p.Leu422=
NM_001375608.1:c.1023C>G	NP_001362537.1:p.Leu341=
NM_001375609.1:c.1056C>G	NP_001362538.1:p.Leu352=
NM_001375610.1:c.1074C>G	NP_001362539.1:p.Leu358=
NM_001375611.1:c.1080C>G	NP_001362540.1:p.Leu360=
NM_001375613.1:c.1080C>G	NP_001362542.1:p.Leu360=