Canonical Allele Identifier: CA348406256

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186342T>G (hg19) ; chr2:g.127428766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428766T>G , CM000664.2:g.127428766T>G	GRCh38
NC_000002.11:g.128186342T>G , CM000664.1:g.128186342T>G	GRCh37
NC_000002.10:g.127902812T>G	NCBI36
NG_016323.1:g.15347T>G , LRG_599:g.15347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1206T>G MANE Select	ENSP00000234071.4:p.Ser402Arg
ENST00000234071.7:c.1206T>G	ENSP00000234071.3:p.Ser402Arg
ENST00000402125.2:c.530T>G
ENST00000409048.1:c.1308T>G	ENSP00000386679.1:p.Ser436Arg
NM_000312.3:c.1206T>G , LRG_599t1:c.1206T>G	NP_000303.1:p.Ser402Arg
XM_005263715.3:c.1389T>G	XP_005263772.1:p.Ser463Arg
XM_005263716.3:c.1371T>G	XP_005263773.1:p.Ser457Arg
XM_005263717.3:c.1269T>G	XP_005263774.1:p.Ser423Arg
XR_923313.1:n.1332-502A>C
XM_005263717.4:c.1269T>G	XP_005263774.1:p.Ser423Arg
XM_017004505.1:c.1449T>G	XP_016859994.1:p.Ser483Arg
XM_024453002.1:c.1551T>G	XP_024308770.1:p.Ser517Arg
XM_024453003.1:c.1491T>G	XP_024308771.1:p.Ser497Arg
XM_024453004.1:c.1389T>G	XP_024308772.1:p.Ser463Arg
XM_024453005.1:c.1371T>G	XP_024308773.1:p.Ser457Arg
XM_024453006.1:c.1308T>G	XP_024308774.1:p.Ser436Arg
XR_001739705.1:n.3607-502A>C
XR_923313.2:n.4043-502A>C
NM_000312.4:c.1206T>G MANE Select	NP_000303.1:p.Ser402Arg
NM_001375602.1:c.1389T>G	NP_001362531.1:p.Ser463Arg
NM_001375603.1:c.1371T>G	NP_001362532.1:p.Ser457Arg
NM_001375604.1:c.1269T>G	NP_001362533.1:p.Ser423Arg
NM_001375605.1:c.1308T>G	NP_001362534.1:p.Ser436Arg
NM_001375606.1:c.1374T>G	NP_001362535.1:p.Ser458Arg
NM_001375607.1:c.1392T>G	NP_001362536.1:p.Ser464Arg
NM_001375608.1:c.1149T>G	NP_001362537.1:p.Ser383Arg
NM_001375609.1:c.1182T>G	NP_001362538.1:p.Ser394Arg
NM_001375610.1:c.1200T>G	NP_001362539.1:p.Ser400Arg
NM_001375611.1:c.1206T>G	NP_001362540.1:p.Ser402Arg
NM_001375613.1:c.1206T>G	NP_001362542.1:p.Ser402Arg