Canonical Allele Identifier: CA348405613

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186177C>G (hg19) ; chr2:g.127428601C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428601C>G , CM000664.2:g.127428601C>G	GRCh38
NC_000002.11:g.128186177C>G , CM000664.1:g.128186177C>G	GRCh37
NC_000002.10:g.127902647C>G	NCBI36
NG_016323.1:g.15182C>G , LRG_599:g.15182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1041C>G MANE Select	ENSP00000234071.4:p.Ser347Arg
ENST00000234071.7:c.1041C>G	ENSP00000234071.3:p.Ser347Arg
ENST00000402125.2:c.365C>G
ENST00000409048.1:c.1143C>G	ENSP00000386679.1:p.Ser381Arg
NM_000312.3:c.1041C>G , LRG_599t1:c.1041C>G	NP_000303.1:p.Ser347Arg
XM_005263715.3:c.1224C>G	XP_005263772.1:p.Ser408Arg
XM_005263716.3:c.1206C>G	XP_005263773.1:p.Ser402Arg
XM_005263717.3:c.1104C>G	XP_005263774.1:p.Ser368Arg
XR_923313.1:n.1332-337G>C
XM_005263717.4:c.1104C>G	XP_005263774.1:p.Ser368Arg
XM_017004505.1:c.1284C>G	XP_016859994.1:p.Ser428Arg
XM_024453002.1:c.1386C>G	XP_024308770.1:p.Ser462Arg
XM_024453003.1:c.1326C>G	XP_024308771.1:p.Ser442Arg
XM_024453004.1:c.1224C>G	XP_024308772.1:p.Ser408Arg
XM_024453005.1:c.1206C>G	XP_024308773.1:p.Ser402Arg
XM_024453006.1:c.1143C>G	XP_024308774.1:p.Ser381Arg
XR_001739705.1:n.3607-337G>C
XR_923313.2:n.4043-337G>C
NM_000312.4:c.1041C>G MANE Select	NP_000303.1:p.Ser347Arg
NM_001375602.1:c.1224C>G	NP_001362531.1:p.Ser408Arg
NM_001375603.1:c.1206C>G	NP_001362532.1:p.Ser402Arg
NM_001375604.1:c.1104C>G	NP_001362533.1:p.Ser368Arg
NM_001375605.1:c.1143C>G	NP_001362534.1:p.Ser381Arg
NM_001375606.1:c.1209C>G	NP_001362535.1:p.Ser403Arg
NM_001375607.1:c.1227C>G	NP_001362536.1:p.Ser409Arg
NM_001375608.1:c.984C>G	NP_001362537.1:p.Ser328Arg
NM_001375609.1:c.1017C>G	NP_001362538.1:p.Ser339Arg
NM_001375610.1:c.1035C>G	NP_001362539.1:p.Ser345Arg
NM_001375611.1:c.1041C>G	NP_001362540.1:p.Ser347Arg
NM_001375613.1:c.1041C>G	NP_001362542.1:p.Ser347Arg