Canonical Allele Identifier: CA535640630

Gene: PROC

Linked Data

• dbSNP Id: rs1345122935
• gnomAD v2: 2-128185890-A-G
• gnomAD v4: 2-127428314-A-G
• MyVariant Identifiers: chr2:g.128185890A>G (hg19) ; chr2:g.127428314A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428314A>G , CM000664.2:g.127428314A>G	GRCh38
NC_000002.11:g.128185890A>G , CM000664.1:g.128185890A>G	GRCh37
NC_000002.10:g.127902360A>G	NCBI36
NG_016323.1:g.14895A>G , LRG_599:g.14895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.797-43A>G MANE Select	ENSP00000234071.4:n.797-43A>G
ENST00000234071.7:c.797-43A>G	ENSP00000234071.3:n.797-43A>G
ENST00000402125.2:c.121-43A>G
ENST00000409048.1:c.899-43A>G	ENSP00000386679.1:n.899-43A>G
NM_000312.3:c.797-43A>G , LRG_599t1:c.797-43A>G	NP_000303.1:n.797-43A>G
XM_005263715.3:c.980-43A>G	XP_005263772.1:n.980-43A>G
XM_005263716.3:c.962-43A>G	XP_005263773.1:n.962-43A>G
XM_005263717.3:c.860-43A>G	XP_005263774.1:n.860-43A>G
XR_923313.1:n.1332-50T>C
XM_005263717.4:c.860-43A>G	XP_005263774.1:n.860-43A>G
XM_017004505.1:c.1040-43A>G	XP_016859994.1:n.1040-43A>G
XM_024453002.1:c.1142-43A>G	XP_024308770.1:n.1142-43A>G
XM_024453003.1:c.1082-43A>G	XP_024308771.1:n.1082-43A>G
XM_024453004.1:c.980-43A>G	XP_024308772.1:n.980-43A>G
XM_024453005.1:c.962-43A>G	XP_024308773.1:n.962-43A>G
XM_024453006.1:c.899-43A>G	XP_024308774.1:n.899-43A>G
XR_001739705.1:n.3607-50T>C
XR_923313.2:n.4043-50T>C
NM_000312.4:c.797-43A>G MANE Select	NP_000303.1:n.797-43A>G
NM_001375602.1:c.980-43A>G	NP_001362531.1:n.980-43A>G
NM_001375603.1:c.962-43A>G	NP_001362532.1:n.962-43A>G
NM_001375604.1:c.860-43A>G	NP_001362533.1:n.860-43A>G
NM_001375605.1:c.899-43A>G	NP_001362534.1:n.899-43A>G
NM_001375606.1:c.965-43A>G	NP_001362535.1:n.965-43A>G
NM_001375607.1:c.983-43A>G	NP_001362536.1:n.983-43A>G
NM_001375608.1:c.740-43A>G	NP_001362537.1:n.740-43A>G
NM_001375609.1:c.773-43A>G	NP_001362538.1:n.773-43A>G
NM_001375610.1:c.791-43A>G	NP_001362539.1:n.791-43A>G
NM_001375611.1:c.797-43A>G	NP_001362540.1:n.797-43A>G
NM_001375613.1:c.797-43A>G	NP_001362542.1:n.797-43A>G