Canonical Allele Identifier: CA348401792

Gene: PROC

Linked Data

• ClinVar Variation Id: 1420279
• ClinVar RCV Id: RCV001914156
• dbSNP Id: rs757925208
• MyVariant Identifiers: chr2:g.128183800G>A (hg19) ; chr2:g.127426224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426224G>A , CM000664.2:g.127426224G>A	GRCh38
NC_000002.11:g.128183800G>A , CM000664.1:g.128183800G>A	GRCh37
NC_000002.10:g.127900270G>A	NCBI36
NG_016323.1:g.12805G>A , LRG_599:g.12805G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.675G>A MANE Select	ENSP00000234071.4:p.Trp225Ter
ENST00000234071.7:c.675G>A	ENSP00000234071.3:p.Trp225Ter
ENST00000402125.2:c.121-2133G>A
ENST00000409048.1:c.777G>A	ENSP00000386679.1:p.Trp259Ter
ENST00000464089.1:n.261G>A
NM_000312.3:c.675G>A , LRG_599t1:c.675G>A	NP_000303.1:p.Trp225Ter
XM_005263715.3:c.858G>A	XP_005263772.1:p.Trp286Ter
XM_005263716.3:c.840G>A	XP_005263773.1:p.Trp280Ter
XM_005263717.3:c.738G>A	XP_005263774.1:p.Trp246Ter
XM_005263717.4:c.738G>A	XP_005263774.1:p.Trp246Ter
XM_017004505.1:c.918G>A	XP_016859994.1:p.Trp306Ter
XM_024453002.1:c.1020G>A	XP_024308770.1:p.Trp340Ter
XM_024453003.1:c.960G>A	XP_024308771.1:p.Trp320Ter
XM_024453004.1:c.858G>A	XP_024308772.1:p.Trp286Ter
XM_024453005.1:c.840G>A	XP_024308773.1:p.Trp280Ter
XM_024453006.1:c.777G>A	XP_024308774.1:p.Trp259Ter
XR_923313.2:n.4361C>T
NM_000312.4:c.675G>A MANE Select	NP_000303.1:p.Trp225Ter
NM_001375602.1:c.858G>A	NP_001362531.1:p.Trp286Ter
NM_001375603.1:c.840G>A	NP_001362532.1:p.Trp280Ter
NM_001375604.1:c.738G>A	NP_001362533.1:p.Trp246Ter
NM_001375605.1:c.777G>A	NP_001362534.1:p.Trp259Ter
NM_001375606.1:c.843G>A	NP_001362535.1:p.Trp281Ter
NM_001375607.1:c.861G>A	NP_001362536.1:p.Trp287Ter
NM_001375608.1:c.618G>A	NP_001362537.1:p.Trp206Ter
NM_001375609.1:c.651G>A	NP_001362538.1:p.Trp217Ter
NM_001375610.1:c.669G>A	NP_001362539.1:p.Trp223Ter
NM_001375611.1:c.675G>A	NP_001362540.1:p.Trp225Ter
NM_001375613.1:c.675G>A	NP_001362542.1:p.Trp225Ter