Canonical Allele Identifier: CA428873071

Gene: PROC

Linked Data

• gnomAD v4: 2-127428868-C-G
• MyVariant Identifiers: chr2:g.128186444C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428868C>G , CM000664.2:g.127428868C>G	GRCh38
NC_000002.11:g.128186444C>G , CM000664.1:g.128186444C>G	GRCh37
NC_000002.10:g.127902914C>G	NCBI36
NG_016323.1:g.15449C>G , LRG_599:g.15449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1308C>G MANE Select	ENSP00000234071.4:p.Thr436=
ENST00000234071.7:c.1308C>G	ENSP00000234071.3:p.Thr436=
ENST00000402125.2:c.632C>G
ENST00000409048.1:c.1410C>G	ENSP00000386679.1:p.Thr470=
NM_000312.3:c.1308C>G , LRG_599t1:c.1308C>G	NP_000303.1:p.Thr436=
XM_005263715.3:c.1491C>G	XP_005263772.1:p.Thr497=
XM_005263716.3:c.1473C>G	XP_005263773.1:p.Thr491=
XM_005263717.3:c.1371C>G	XP_005263774.1:p.Thr457=
XR_923313.1:n.1332-604G>C
XM_005263717.4:c.1371C>G	XP_005263774.1:p.Thr457=
XM_017004505.1:c.1551C>G	XP_016859994.1:p.Thr517=
XM_024453002.1:c.1653C>G	XP_024308770.1:p.Thr551=
XM_024453003.1:c.1593C>G	XP_024308771.1:p.Thr531=
XM_024453004.1:c.1491C>G	XP_024308772.1:p.Thr497=
XM_024453005.1:c.1473C>G	XP_024308773.1:p.Thr491=
XM_024453006.1:c.1410C>G	XP_024308774.1:p.Thr470=
XR_001739705.1:n.3607-604G>C
XR_923313.2:n.4043-604G>C
NM_000312.4:c.1308C>G MANE Select	NP_000303.1:p.Thr436=
NM_001375602.1:c.1491C>G	NP_001362531.1:p.Thr497=
NM_001375603.1:c.1473C>G	NP_001362532.1:p.Thr491=
NM_001375604.1:c.1371C>G	NP_001362533.1:p.Thr457=
NM_001375605.1:c.1410C>G	NP_001362534.1:p.Thr470=
NM_001375606.1:c.1476C>G	NP_001362535.1:p.Thr492=
NM_001375607.1:c.1494C>G	NP_001362536.1:p.Thr498=
NM_001375608.1:c.1251C>G	NP_001362537.1:p.Thr417=
NM_001375609.1:c.1284C>G	NP_001362538.1:p.Thr428=
NM_001375610.1:c.1302C>G	NP_001362539.1:p.Thr434=
NM_001375611.1:c.1308C>G	NP_001362540.1:p.Thr436=
NM_001375613.1:c.1308C>G	NP_001362542.1:p.Thr436=