Canonical Allele Identifier: CA348401114

Gene: PROC

Linked Data

• gnomAD v4: 2-127426117-A-G
• MyVariant Identifiers: chr2:g.128183693A>G (hg19) ; chr2:g.127426117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426117A>G , CM000664.2:g.127426117A>G	GRCh38
NC_000002.11:g.128183693A>G , CM000664.1:g.128183693A>G	GRCh37
NC_000002.10:g.127900163A>G	NCBI36
NG_016323.1:g.12698A>G , LRG_599:g.12698A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.568A>G MANE Select	ENSP00000234071.4:p.Met190Val
ENST00000234071.7:c.568A>G	ENSP00000234071.3:p.Met190Val
ENST00000402125.2:c.121-2240A>G
ENST00000409048.1:c.670A>G	ENSP00000386679.1:p.Met224Val
ENST00000442644.5:c.511A>G	ENSP00000411241.1:p.Met171Val
ENST00000464089.1:n.154A>G
NM_000312.3:c.568A>G , LRG_599t1:c.568A>G	NP_000303.1:p.Met190Val
XM_005263715.3:c.751A>G	XP_005263772.1:p.Met251Val
XM_005263716.3:c.733A>G	XP_005263773.1:p.Met245Val
XM_005263717.3:c.631A>G	XP_005263774.1:p.Met211Val
XM_005263717.4:c.631A>G	XP_005263774.1:p.Met211Val
XM_017004505.1:c.811A>G	XP_016859994.1:p.Met271Val
XM_024453002.1:c.913A>G	XP_024308770.1:p.Met305Val
XM_024453003.1:c.853A>G	XP_024308771.1:p.Met285Val
XM_024453004.1:c.751A>G	XP_024308772.1:p.Met251Val
XM_024453005.1:c.733A>G	XP_024308773.1:p.Met245Val
XM_024453006.1:c.670A>G	XP_024308774.1:p.Met224Val
XR_923313.2:n.4468T>C
NM_000312.4:c.568A>G MANE Select	NP_000303.1:p.Met190Val
NM_001375602.1:c.751A>G	NP_001362531.1:p.Met251Val
NM_001375603.1:c.733A>G	NP_001362532.1:p.Met245Val
NM_001375604.1:c.631A>G	NP_001362533.1:p.Met211Val
NM_001375605.1:c.670A>G	NP_001362534.1:p.Met224Val
NM_001375606.1:c.736A>G	NP_001362535.1:p.Met246Val
NM_001375607.1:c.754A>G	NP_001362536.1:p.Met252Val
NM_001375608.1:c.511A>G	NP_001362537.1:p.Met171Val
NM_001375609.1:c.544A>G	NP_001362538.1:p.Met182Val
NM_001375610.1:c.562A>G	NP_001362539.1:p.Met188Val
NM_001375611.1:c.568A>G	NP_001362540.1:p.Met190Val
NM_001375613.1:c.568A>G	NP_001362542.1:p.Met190Val