Canonical Allele Identifier: CA428872062

Gene: PROC

Linked Data

• gnomAD v4: 2-127428604-A-G
• MyVariant Identifiers: chr2:g.128186180A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428604A>G , CM000664.2:g.127428604A>G	GRCh38
NC_000002.11:g.128186180A>G , CM000664.1:g.128186180A>G	GRCh37
NC_000002.10:g.127902650A>G	NCBI36
NG_016323.1:g.15185A>G , LRG_599:g.15185A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1044A>G MANE Select	ENSP00000234071.4:p.Arg348=
ENST00000234071.7:c.1044A>G	ENSP00000234071.3:p.Arg348=
ENST00000402125.2:c.368A>G
ENST00000409048.1:c.1146A>G	ENSP00000386679.1:p.Arg382=
NM_000312.3:c.1044A>G , LRG_599t1:c.1044A>G	NP_000303.1:p.Arg348=
XM_005263715.3:c.1227A>G	XP_005263772.1:p.Arg409=
XM_005263716.3:c.1209A>G	XP_005263773.1:p.Arg403=
XM_005263717.3:c.1107A>G	XP_005263774.1:p.Arg369=
XR_923313.1:n.1332-340T>C
XM_005263717.4:c.1107A>G	XP_005263774.1:p.Arg369=
XM_017004505.1:c.1287A>G	XP_016859994.1:p.Arg429=
XM_024453002.1:c.1389A>G	XP_024308770.1:p.Arg463=
XM_024453003.1:c.1329A>G	XP_024308771.1:p.Arg443=
XM_024453004.1:c.1227A>G	XP_024308772.1:p.Arg409=
XM_024453005.1:c.1209A>G	XP_024308773.1:p.Arg403=
XM_024453006.1:c.1146A>G	XP_024308774.1:p.Arg382=
XR_001739705.1:n.3607-340T>C
XR_923313.2:n.4043-340T>C
NM_000312.4:c.1044A>G MANE Select	NP_000303.1:p.Arg348=
NM_001375602.1:c.1227A>G	NP_001362531.1:p.Arg409=
NM_001375603.1:c.1209A>G	NP_001362532.1:p.Arg403=
NM_001375604.1:c.1107A>G	NP_001362533.1:p.Arg369=
NM_001375605.1:c.1146A>G	NP_001362534.1:p.Arg382=
NM_001375606.1:c.1212A>G	NP_001362535.1:p.Arg404=
NM_001375607.1:c.1230A>G	NP_001362536.1:p.Arg410=
NM_001375608.1:c.987A>G	NP_001362537.1:p.Arg329=
NM_001375609.1:c.1020A>G	NP_001362538.1:p.Arg340=
NM_001375610.1:c.1038A>G	NP_001362539.1:p.Arg346=
NM_001375611.1:c.1044A>G	NP_001362540.1:p.Arg348=
NM_001375613.1:c.1044A>G	NP_001362542.1:p.Arg348=