Canonical Allele Identifier: CA348399230

Gene: PROC

Linked Data

• gnomAD v4: 2-127423181-A-T
• MyVariant Identifiers: chr2:g.128180757A>T (hg19) ; chr2:g.127423181A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423181A>T , CM000664.2:g.127423181A>T	GRCh38
NC_000002.11:g.128180757A>T , CM000664.1:g.128180757A>T	GRCh37
NC_000002.10:g.127897227A>T	NCBI36
NG_016323.1:g.9762A>T , LRG_599:g.9762A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+10A>T MANE Select	ENSP00000234071.4:n.400+10A>T
ENST00000234071.7:c.400+10A>T	ENSP00000234071.3:n.400+10A>T
ENST00000409048.1:c.410A>T	ENSP00000386679.1:p.Glu137Val
ENST00000419985.5:c.*216A>T	ENSP00000392606.1:n.*216A>T
ENST00000442644.5:c.400+10A>T	ENSP00000411241.1:n.400+10A>T
NM_000312.3:c.400+10A>T , LRG_599t1:c.400+10A>T	NP_000303.1:n.400+10A>T
XM_005263715.3:c.583+10A>T	XP_005263772.1:n.583+10A>T
XM_005263716.3:c.473A>T	XP_005263773.1:p.Glu158Val
XM_005263717.3:c.463+10A>T	XP_005263774.1:n.463+10A>T
XM_005263717.4:c.463+10A>T	XP_005263774.1:n.463+10A>T
XM_017004505.1:c.643+10A>T	XP_016859994.1:n.643+10A>T
XM_024453002.1:c.653A>T	XP_024308770.1:p.Glu218Val
XM_024453003.1:c.593A>T	XP_024308771.1:p.Glu198Val
XM_024453004.1:c.583+10A>T	XP_024308772.1:n.583+10A>T
XM_024453005.1:c.473A>T	XP_024308773.1:p.Glu158Val
XM_024453006.1:c.410A>T	XP_024308774.1:p.Glu137Val
NM_000312.4:c.400+10A>T MANE Select	NP_000303.1:n.400+10A>T
NM_001375602.1:c.583+10A>T	NP_001362531.1:n.583+10A>T
NM_001375603.1:c.473A>T	NP_001362532.1:p.Glu158Val
NM_001375604.1:c.463+10A>T	NP_001362533.1:n.463+10A>T
NM_001375605.1:c.410A>T	NP_001362534.1:p.Glu137Val
NM_001375606.1:c.565A>T	NP_001362535.1:p.Arg189Ter
NM_001375607.1:c.494A>T	NP_001362536.1:p.Glu165Val
NM_001375608.1:c.400+10A>T	NP_001362537.1:n.400+10A>T
NM_001375609.1:c.376+10A>T	NP_001362538.1:n.376+10A>T
NM_001375610.1:c.394+10A>T	NP_001362539.1:n.394+10A>T
NM_001375611.1:c.400+10A>T	NP_001362540.1:n.400+10A>T
NM_001375613.1:c.400+10A>T	NP_001362542.1:n.400+10A>T