Canonical Allele Identifier: CA348406697

Gene: PROC

Linked Data

• dbSNP Id: rs1688712191
• gnomAD v4: 2-127428897-A-G
• MyVariant Identifiers: chr2:g.128186473A>G (hg19) ; chr2:g.127428897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428897A>G , CM000664.2:g.127428897A>G	GRCh38
NC_000002.11:g.128186473A>G , CM000664.1:g.128186473A>G	GRCh37
NC_000002.10:g.127902943A>G	NCBI36
NG_016323.1:g.15478A>G , LRG_599:g.15478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1337A>G MANE Select	ENSP00000234071.4:p.His446Arg
ENST00000234071.7:c.1337A>G	ENSP00000234071.3:p.His446Arg
ENST00000402125.2:c.661A>G
ENST00000409048.1:c.1439A>G	ENSP00000386679.1:p.His480Arg
NM_000312.3:c.1337A>G , LRG_599t1:c.1337A>G	NP_000303.1:p.His446Arg
XM_005263715.3:c.1520A>G	XP_005263772.1:p.His507Arg
XM_005263716.3:c.1502A>G	XP_005263773.1:p.His501Arg
XM_005263717.3:c.1400A>G	XP_005263774.1:p.His467Arg
XR_923313.1:n.1332-633T>C
XM_005263717.4:c.1400A>G	XP_005263774.1:p.His467Arg
XM_017004505.1:c.1580A>G	XP_016859994.1:p.His527Arg
XM_024453002.1:c.1682A>G	XP_024308770.1:p.His561Arg
XM_024453003.1:c.1622A>G	XP_024308771.1:p.His541Arg
XM_024453004.1:c.1520A>G	XP_024308772.1:p.His507Arg
XM_024453005.1:c.1502A>G	XP_024308773.1:p.His501Arg
XM_024453006.1:c.1439A>G	XP_024308774.1:p.His480Arg
XR_001739705.1:n.3607-633T>C
XR_923313.2:n.4043-633T>C
NM_000312.4:c.1337A>G MANE Select	NP_000303.1:p.His446Arg
NM_001375602.1:c.1520A>G	NP_001362531.1:p.His507Arg
NM_001375603.1:c.1502A>G	NP_001362532.1:p.His501Arg
NM_001375604.1:c.1400A>G	NP_001362533.1:p.His467Arg
NM_001375605.1:c.1439A>G	NP_001362534.1:p.His480Arg
NM_001375606.1:c.1505A>G	NP_001362535.1:p.His502Arg
NM_001375607.1:c.1523A>G	NP_001362536.1:p.His508Arg
NM_001375608.1:c.1280A>G	NP_001362537.1:p.His427Arg
NM_001375609.1:c.1313A>G	NP_001362538.1:p.His438Arg
NM_001375610.1:c.1331A>G	NP_001362539.1:p.His444Arg
NM_001375611.1:c.1337A>G	NP_001362540.1:p.His446Arg
NM_001375613.1:c.1337A>G	NP_001362542.1:p.His446Arg