Canonical Allele Identifier: CA348404866

Gene: PROC

Linked Data

• dbSNP Id: rs1352502782
• gnomAD v2: 2-128186058-C-G
• gnomAD v4: 2-127428482-C-G
• MyVariant Identifiers: chr2:g.128186058C>G (hg19) ; chr2:g.127428482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428482C>G , CM000664.2:g.127428482C>G	GRCh38
NC_000002.11:g.128186058C>G , CM000664.1:g.128186058C>G	GRCh37
NC_000002.10:g.127902528C>G	NCBI36
NG_016323.1:g.15063C>G , LRG_599:g.15063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.922C>G MANE Select	ENSP00000234071.4:p.Pro308Ala
ENST00000234071.7:c.922C>G	ENSP00000234071.3:p.Pro308Ala
ENST00000402125.2:c.246C>G
ENST00000409048.1:c.1024C>G	ENSP00000386679.1:p.Pro342Ala
NM_000312.3:c.922C>G , LRG_599t1:c.922C>G	NP_000303.1:p.Pro308Ala
XM_005263715.3:c.1105C>G	XP_005263772.1:p.Pro369Ala
XM_005263716.3:c.1087C>G	XP_005263773.1:p.Pro363Ala
XM_005263717.3:c.985C>G	XP_005263774.1:p.Pro329Ala
XR_923313.1:n.1332-218G>C
XM_005263717.4:c.985C>G	XP_005263774.1:p.Pro329Ala
XM_017004505.1:c.1165C>G	XP_016859994.1:p.Pro389Ala
XM_024453002.1:c.1267C>G	XP_024308770.1:p.Pro423Ala
XM_024453003.1:c.1207C>G	XP_024308771.1:p.Pro403Ala
XM_024453004.1:c.1105C>G	XP_024308772.1:p.Pro369Ala
XM_024453005.1:c.1087C>G	XP_024308773.1:p.Pro363Ala
XM_024453006.1:c.1024C>G	XP_024308774.1:p.Pro342Ala
XR_001739705.1:n.3607-218G>C
XR_923313.2:n.4043-218G>C
NM_000312.4:c.922C>G MANE Select	NP_000303.1:p.Pro308Ala
NM_001375602.1:c.1105C>G	NP_001362531.1:p.Pro369Ala
NM_001375603.1:c.1087C>G	NP_001362532.1:p.Pro363Ala
NM_001375604.1:c.985C>G	NP_001362533.1:p.Pro329Ala
NM_001375605.1:c.1024C>G	NP_001362534.1:p.Pro342Ala
NM_001375606.1:c.1090C>G	NP_001362535.1:p.Pro364Ala
NM_001375607.1:c.1108C>G	NP_001362536.1:p.Pro370Ala
NM_001375608.1:c.865C>G	NP_001362537.1:p.Pro289Ala
NM_001375609.1:c.898C>G	NP_001362538.1:p.Pro300Ala
NM_001375610.1:c.916C>G	NP_001362539.1:p.Pro306Ala
NM_001375611.1:c.922C>G	NP_001362540.1:p.Pro308Ala
NM_001375613.1:c.922C>G	NP_001362542.1:p.Pro308Ala