Canonical Allele Identifier: CA348401495

Gene: PROC

Linked Data

• ClinVar Variation Id: 1040230
• ClinVar RCV Id: RCV001343833
• dbSNP Id: rs199469476
• MyVariant Identifiers: chr2:g.128183757G>T (hg19) ; chr2:g.127426181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426181G>T , CM000664.2:g.127426181G>T	GRCh38
NC_000002.11:g.128183757G>T , CM000664.1:g.128183757G>T	GRCh37
NC_000002.10:g.127900227G>T	NCBI36
NG_016323.1:g.12762G>T , LRG_599:g.12762G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.632G>T MANE Select	ENSP00000234071.4:p.Arg211Leu
ENST00000234071.7:c.632G>T	ENSP00000234071.3:p.Arg211Leu
ENST00000402125.2:c.121-2176G>T
ENST00000409048.1:c.734G>T	ENSP00000386679.1:p.Arg245Leu
ENST00000464089.1:n.218G>T
NM_000312.3:c.632G>T , LRG_599t1:c.632G>T	NP_000303.1:p.Arg211Leu
XM_005263715.3:c.815G>T	XP_005263772.1:p.Arg272Leu
XM_005263716.3:c.797G>T	XP_005263773.1:p.Arg266Leu
XM_005263717.3:c.695G>T	XP_005263774.1:p.Arg232Leu
XM_005263717.4:c.695G>T	XP_005263774.1:p.Arg232Leu
XM_017004505.1:c.875G>T	XP_016859994.1:p.Arg292Leu
XM_024453002.1:c.977G>T	XP_024308770.1:p.Arg326Leu
XM_024453003.1:c.917G>T	XP_024308771.1:p.Arg306Leu
XM_024453004.1:c.815G>T	XP_024308772.1:p.Arg272Leu
XM_024453005.1:c.797G>T	XP_024308773.1:p.Arg266Leu
XM_024453006.1:c.734G>T	XP_024308774.1:p.Arg245Leu
XR_923313.2:n.4404C>A
NM_000312.4:c.632G>T MANE Select	NP_000303.1:p.Arg211Leu
NM_001375602.1:c.815G>T	NP_001362531.1:p.Arg272Leu
NM_001375603.1:c.797G>T	NP_001362532.1:p.Arg266Leu
NM_001375604.1:c.695G>T	NP_001362533.1:p.Arg232Leu
NM_001375605.1:c.734G>T	NP_001362534.1:p.Arg245Leu
NM_001375606.1:c.800G>T	NP_001362535.1:p.Arg267Leu
NM_001375607.1:c.818G>T	NP_001362536.1:p.Arg273Leu
NM_001375608.1:c.575G>T	NP_001362537.1:p.Arg192Leu
NM_001375609.1:c.608G>T	NP_001362538.1:p.Arg203Leu
NM_001375610.1:c.626G>T	NP_001362539.1:p.Arg209Leu
NM_001375611.1:c.632G>T	NP_001362540.1:p.Arg211Leu
NM_001375613.1:c.632G>T	NP_001362542.1:p.Arg211Leu