Canonical Allele Identifier: CA348401083

Gene: PROC

Linked Data

• gnomAD v4: 2-127426111-A-G
• MyVariant Identifiers: chr2:g.128183687A>G (hg19) ; chr2:g.127426111A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426111A>G , CM000664.2:g.127426111A>G	GRCh38
NC_000002.11:g.128183687A>G , CM000664.1:g.128183687A>G	GRCh37
NC_000002.10:g.127900157A>G	NCBI36
NG_016323.1:g.12692A>G , LRG_599:g.12692A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.562A>G MANE Select	ENSP00000234071.4:p.Lys188Glu
ENST00000234071.7:c.562A>G	ENSP00000234071.3:p.Lys188Glu
ENST00000402125.2:c.121-2246A>G
ENST00000409048.1:c.664A>G	ENSP00000386679.1:p.Lys222Glu
ENST00000442644.5:c.505A>G	ENSP00000411241.1:p.Lys169Glu
ENST00000464089.1:n.148A>G
NM_000312.3:c.562A>G , LRG_599t1:c.562A>G	NP_000303.1:p.Lys188Glu
XM_005263715.3:c.745A>G	XP_005263772.1:p.Lys249Glu
XM_005263716.3:c.727A>G	XP_005263773.1:p.Lys243Glu
XM_005263717.3:c.625A>G	XP_005263774.1:p.Lys209Glu
XM_005263717.4:c.625A>G	XP_005263774.1:p.Lys209Glu
XM_017004505.1:c.805A>G	XP_016859994.1:p.Lys269Glu
XM_024453002.1:c.907A>G	XP_024308770.1:p.Lys303Glu
XM_024453003.1:c.847A>G	XP_024308771.1:p.Lys283Glu
XM_024453004.1:c.745A>G	XP_024308772.1:p.Lys249Glu
XM_024453005.1:c.727A>G	XP_024308773.1:p.Lys243Glu
XM_024453006.1:c.664A>G	XP_024308774.1:p.Lys222Glu
XR_923313.2:n.4474T>C
NM_000312.4:c.562A>G MANE Select	NP_000303.1:p.Lys188Glu
NM_001375602.1:c.745A>G	NP_001362531.1:p.Lys249Glu
NM_001375603.1:c.727A>G	NP_001362532.1:p.Lys243Glu
NM_001375604.1:c.625A>G	NP_001362533.1:p.Lys209Glu
NM_001375605.1:c.664A>G	NP_001362534.1:p.Lys222Glu
NM_001375606.1:c.730A>G	NP_001362535.1:p.Lys244Glu
NM_001375607.1:c.748A>G	NP_001362536.1:p.Lys250Glu
NM_001375608.1:c.505A>G	NP_001362537.1:p.Lys169Glu
NM_001375609.1:c.538A>G	NP_001362538.1:p.Lys180Glu
NM_001375610.1:c.556A>G	NP_001362539.1:p.Lys186Glu
NM_001375611.1:c.562A>G	NP_001362540.1:p.Lys188Glu
NM_001375613.1:c.562A>G	NP_001362542.1:p.Lys188Glu