Canonical Allele Identifier: CA348401254

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183714C>G (hg19) ; chr2:g.127426138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426138C>G , CM000664.2:g.127426138C>G	GRCh38
NC_000002.11:g.128183714C>G , CM000664.1:g.128183714C>G	GRCh37
NC_000002.10:g.127900184C>G	NCBI36
NG_016323.1:g.12719C>G , LRG_599:g.12719C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.589C>G MANE Select	ENSP00000234071.4:p.Leu197Val
ENST00000234071.7:c.589C>G	ENSP00000234071.3:p.Leu197Val
ENST00000402125.2:c.121-2219C>G
ENST00000409048.1:c.691C>G	ENSP00000386679.1:p.Leu231Val
ENST00000464089.1:n.175C>G
NM_000312.3:c.589C>G , LRG_599t1:c.589C>G	NP_000303.1:p.Leu197Val
XM_005263715.3:c.772C>G	XP_005263772.1:p.Leu258Val
XM_005263716.3:c.754C>G	XP_005263773.1:p.Leu252Val
XM_005263717.3:c.652C>G	XP_005263774.1:p.Leu218Val
XM_005263717.4:c.652C>G	XP_005263774.1:p.Leu218Val
XM_017004505.1:c.832C>G	XP_016859994.1:p.Leu278Val
XM_024453002.1:c.934C>G	XP_024308770.1:p.Leu312Val
XM_024453003.1:c.874C>G	XP_024308771.1:p.Leu292Val
XM_024453004.1:c.772C>G	XP_024308772.1:p.Leu258Val
XM_024453005.1:c.754C>G	XP_024308773.1:p.Leu252Val
XM_024453006.1:c.691C>G	XP_024308774.1:p.Leu231Val
XR_923313.2:n.4447G>C
NM_000312.4:c.589C>G MANE Select	NP_000303.1:p.Leu197Val
NM_001375602.1:c.772C>G	NP_001362531.1:p.Leu258Val
NM_001375603.1:c.754C>G	NP_001362532.1:p.Leu252Val
NM_001375604.1:c.652C>G	NP_001362533.1:p.Leu218Val
NM_001375605.1:c.691C>G	NP_001362534.1:p.Leu231Val
NM_001375606.1:c.757C>G	NP_001362535.1:p.Leu253Val
NM_001375607.1:c.775C>G	NP_001362536.1:p.Leu259Val
NM_001375608.1:c.532C>G	NP_001362537.1:p.Leu178Val
NM_001375609.1:c.565C>G	NP_001362538.1:p.Leu189Val
NM_001375610.1:c.583C>G	NP_001362539.1:p.Leu195Val
NM_001375611.1:c.589C>G	NP_001362540.1:p.Leu197Val
NM_001375613.1:c.589C>G	NP_001362542.1:p.Leu197Val