Canonical Allele Identifier: CA348401028

Gene: PROC

Linked Data

• gnomAD v4: 2-127426103-G-A
• MyVariant Identifiers: chr2:g.128183679G>A (hg19) ; chr2:g.127426103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426103G>A , CM000664.2:g.127426103G>A	GRCh38
NC_000002.11:g.128183679G>A , CM000664.1:g.128183679G>A	GRCh37
NC_000002.10:g.127900149G>A	NCBI36
NG_016323.1:g.12684G>A , LRG_599:g.12684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.554G>A MANE Select	ENSP00000234071.4:p.Arg185Lys
ENST00000234071.7:c.554G>A	ENSP00000234071.3:p.Arg185Lys
ENST00000402125.2:c.121-2254G>A
ENST00000409048.1:c.656G>A	ENSP00000386679.1:p.Arg219Lys
ENST00000442644.5:c.497G>A	ENSP00000411241.1:p.Arg166Lys
ENST00000464089.1:n.140G>A
NM_000312.3:c.554G>A , LRG_599t1:c.554G>A	NP_000303.1:p.Arg185Lys
XM_005263715.3:c.737G>A	XP_005263772.1:p.Arg246Lys
XM_005263716.3:c.719G>A	XP_005263773.1:p.Arg240Lys
XM_005263717.3:c.617G>A	XP_005263774.1:p.Arg206Lys
XM_005263717.4:c.617G>A	XP_005263774.1:p.Arg206Lys
XM_017004505.1:c.797G>A	XP_016859994.1:p.Arg266Lys
XM_024453002.1:c.899G>A	XP_024308770.1:p.Arg300Lys
XM_024453003.1:c.839G>A	XP_024308771.1:p.Arg280Lys
XM_024453004.1:c.737G>A	XP_024308772.1:p.Arg246Lys
XM_024453005.1:c.719G>A	XP_024308773.1:p.Arg240Lys
XM_024453006.1:c.656G>A	XP_024308774.1:p.Arg219Lys
XR_923313.2:n.4482C>T
NM_000312.4:c.554G>A MANE Select	NP_000303.1:p.Arg185Lys
NM_001375602.1:c.737G>A	NP_001362531.1:p.Arg246Lys
NM_001375603.1:c.719G>A	NP_001362532.1:p.Arg240Lys
NM_001375604.1:c.617G>A	NP_001362533.1:p.Arg206Lys
NM_001375605.1:c.656G>A	NP_001362534.1:p.Arg219Lys
NM_001375606.1:c.722G>A	NP_001362535.1:p.Arg241Lys
NM_001375607.1:c.740G>A	NP_001362536.1:p.Arg247Lys
NM_001375608.1:c.497G>A	NP_001362537.1:p.Arg166Lys
NM_001375609.1:c.530G>A	NP_001362538.1:p.Arg177Lys
NM_001375610.1:c.548G>A	NP_001362539.1:p.Arg183Lys
NM_001375611.1:c.554G>A	NP_001362540.1:p.Arg185Lys
NM_001375613.1:c.554G>A	NP_001362542.1:p.Arg185Lys