Canonical Allele Identifier: CA348401282

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183718A>G (hg19) ; chr2:g.127426142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426142A>G , CM000664.2:g.127426142A>G	GRCh38
NC_000002.11:g.128183718A>G , CM000664.1:g.128183718A>G	GRCh37
NC_000002.10:g.127900188A>G	NCBI36
NG_016323.1:g.12723A>G , LRG_599:g.12723A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.593A>G MANE Select	ENSP00000234071.4:p.Lys198Arg
ENST00000234071.7:c.593A>G	ENSP00000234071.3:p.Lys198Arg
ENST00000402125.2:c.121-2215A>G
ENST00000409048.1:c.695A>G	ENSP00000386679.1:p.Lys232Arg
ENST00000464089.1:n.179A>G
NM_000312.3:c.593A>G , LRG_599t1:c.593A>G	NP_000303.1:p.Lys198Arg
XM_005263715.3:c.776A>G	XP_005263772.1:p.Lys259Arg
XM_005263716.3:c.758A>G	XP_005263773.1:p.Lys253Arg
XM_005263717.3:c.656A>G	XP_005263774.1:p.Lys219Arg
XM_005263717.4:c.656A>G	XP_005263774.1:p.Lys219Arg
XM_017004505.1:c.836A>G	XP_016859994.1:p.Lys279Arg
XM_024453002.1:c.938A>G	XP_024308770.1:p.Lys313Arg
XM_024453003.1:c.878A>G	XP_024308771.1:p.Lys293Arg
XM_024453004.1:c.776A>G	XP_024308772.1:p.Lys259Arg
XM_024453005.1:c.758A>G	XP_024308773.1:p.Lys253Arg
XM_024453006.1:c.695A>G	XP_024308774.1:p.Lys232Arg
XR_923313.2:n.4443T>C
NM_000312.4:c.593A>G MANE Select	NP_000303.1:p.Lys198Arg
NM_001375602.1:c.776A>G	NP_001362531.1:p.Lys259Arg
NM_001375603.1:c.758A>G	NP_001362532.1:p.Lys253Arg
NM_001375604.1:c.656A>G	NP_001362533.1:p.Lys219Arg
NM_001375605.1:c.695A>G	NP_001362534.1:p.Lys232Arg
NM_001375606.1:c.761A>G	NP_001362535.1:p.Lys254Arg
NM_001375607.1:c.779A>G	NP_001362536.1:p.Lys260Arg
NM_001375608.1:c.536A>G	NP_001362537.1:p.Lys179Arg
NM_001375609.1:c.569A>G	NP_001362538.1:p.Lys190Arg
NM_001375610.1:c.587A>G	NP_001362539.1:p.Lys196Arg
NM_001375611.1:c.593A>G	NP_001362540.1:p.Lys198Arg
NM_001375613.1:c.593A>G	NP_001362542.1:p.Lys198Arg