Canonical Allele Identifier: CA348405616

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186178C>G (hg19) ; chr2:g.127428602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428602C>G , CM000664.2:g.127428602C>G	GRCh38
NC_000002.11:g.128186178C>G , CM000664.1:g.128186178C>G	GRCh37
NC_000002.10:g.127902648C>G	NCBI36
NG_016323.1:g.15183C>G , LRG_599:g.15183C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1042C>G MANE Select	ENSP00000234071.4:p.Arg348Gly
ENST00000234071.7:c.1042C>G	ENSP00000234071.3:p.Arg348Gly
ENST00000402125.2:c.366C>G
ENST00000409048.1:c.1144C>G	ENSP00000386679.1:p.Arg382Gly
NM_000312.3:c.1042C>G , LRG_599t1:c.1042C>G	NP_000303.1:p.Arg348Gly
XM_005263715.3:c.1225C>G	XP_005263772.1:p.Arg409Gly
XM_005263716.3:c.1207C>G	XP_005263773.1:p.Arg403Gly
XM_005263717.3:c.1105C>G	XP_005263774.1:p.Arg369Gly
XR_923313.1:n.1332-338G>C
XM_005263717.4:c.1105C>G	XP_005263774.1:p.Arg369Gly
XM_017004505.1:c.1285C>G	XP_016859994.1:p.Arg429Gly
XM_024453002.1:c.1387C>G	XP_024308770.1:p.Arg463Gly
XM_024453003.1:c.1327C>G	XP_024308771.1:p.Arg443Gly
XM_024453004.1:c.1225C>G	XP_024308772.1:p.Arg409Gly
XM_024453005.1:c.1207C>G	XP_024308773.1:p.Arg403Gly
XM_024453006.1:c.1144C>G	XP_024308774.1:p.Arg382Gly
XR_001739705.1:n.3607-338G>C
XR_923313.2:n.4043-338G>C
NM_000312.4:c.1042C>G MANE Select	NP_000303.1:p.Arg348Gly
NM_001375602.1:c.1225C>G	NP_001362531.1:p.Arg409Gly
NM_001375603.1:c.1207C>G	NP_001362532.1:p.Arg403Gly
NM_001375604.1:c.1105C>G	NP_001362533.1:p.Arg369Gly
NM_001375605.1:c.1144C>G	NP_001362534.1:p.Arg382Gly
NM_001375606.1:c.1210C>G	NP_001362535.1:p.Arg404Gly
NM_001375607.1:c.1228C>G	NP_001362536.1:p.Arg410Gly
NM_001375608.1:c.985C>G	NP_001362537.1:p.Arg329Gly
NM_001375609.1:c.1018C>G	NP_001362538.1:p.Arg340Gly
NM_001375610.1:c.1036C>G	NP_001362539.1:p.Arg346Gly
NM_001375611.1:c.1042C>G	NP_001362540.1:p.Arg348Gly
NM_001375613.1:c.1042C>G	NP_001362542.1:p.Arg348Gly