Canonical Allele Identifier: CA348399238

Gene: PROC

Linked Data

• gnomAD v4: 2-127423184-G-T
• MyVariant Identifiers: chr2:g.128180760G>T (hg19) ; chr2:g.127423184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423184G>T , CM000664.2:g.127423184G>T	GRCh38
NC_000002.11:g.128180760G>T , CM000664.1:g.128180760G>T	GRCh37
NC_000002.10:g.127897230G>T	NCBI36
NG_016323.1:g.9765G>T , LRG_599:g.9765G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+13G>T MANE Select	ENSP00000234071.4:n.400+13G>T
ENST00000234071.7:c.400+13G>T	ENSP00000234071.3:n.400+13G>T
ENST00000409048.1:c.413G>T	ENSP00000386679.1:p.Arg138Met
ENST00000419985.5:c.*219G>T	ENSP00000392606.1:n.*219G>T
ENST00000442644.5:c.400+13G>T	ENSP00000411241.1:n.400+13G>T
NM_000312.3:c.400+13G>T , LRG_599t1:c.400+13G>T	NP_000303.1:n.400+13G>T
XM_005263715.3:c.583+13G>T	XP_005263772.1:n.583+13G>T
XM_005263716.3:c.476G>T	XP_005263773.1:p.Arg159Met
XM_005263717.3:c.463+13G>T	XP_005263774.1:n.463+13G>T
XM_005263717.4:c.463+13G>T	XP_005263774.1:n.463+13G>T
XM_017004505.1:c.643+13G>T	XP_016859994.1:n.643+13G>T
XM_024453002.1:c.656G>T	XP_024308770.1:p.Arg219Met
XM_024453003.1:c.596G>T	XP_024308771.1:p.Arg199Met
XM_024453004.1:c.583+13G>T	XP_024308772.1:n.583+13G>T
XM_024453005.1:c.476G>T	XP_024308773.1:p.Arg159Met
XM_024453006.1:c.413G>T	XP_024308774.1:p.Arg138Met
NM_000312.4:c.400+13G>T MANE Select	NP_000303.1:n.400+13G>T
NM_001375602.1:c.583+13G>T	NP_001362531.1:n.583+13G>T
NM_001375603.1:c.476G>T	NP_001362532.1:p.Arg159Met
NM_001375604.1:c.463+13G>T	NP_001362533.1:n.463+13G>T
NM_001375605.1:c.413G>T	NP_001362534.1:p.Arg138Met
NM_001375606.1:c.568G>T	NP_001362535.1:p.Glu190Ter
NM_001375607.1:c.497G>T	NP_001362536.1:p.Arg166Met
NM_001375608.1:c.400+13G>T	NP_001362537.1:n.400+13G>T
NM_001375609.1:c.376+13G>T	NP_001362538.1:n.376+13G>T
NM_001375610.1:c.394+13G>T	NP_001362539.1:n.394+13G>T
NM_001375611.1:c.400+13G>T	NP_001362540.1:n.400+13G>T
NM_001375613.1:c.400+13G>T	NP_001362542.1:n.400+13G>T