Canonical Allele Identifier: CA1859582

Gene: PROC

Linked Data

• dbSNP Id: rs759828747
• ExAC: 2:128186554 G / A
• gnomAD v2: 2-128186554-G-A
• gnomAD v3: 2-127428978-G-A
• gnomAD v4: 2-127428978-G-A
• MyVariant Identifiers: chr2:g.128186554G>A (hg19) ; chr2:g.127428978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428978G>A , CM000664.2:g.127428978G>A	GRCh38
NC_000002.11:g.128186554G>A , CM000664.1:g.128186554G>A	GRCh37
NC_000002.10:g.127903024G>A	NCBI36
NG_016323.1:g.15559G>A , LRG_599:g.15559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.*32G>A MANE Select	ENSP00000234071.4:n.*32G>A
ENST00000234071.7:c.*32G>A	ENSP00000234071.3:n.*32G>A
ENST00000402125.2:c.742G>A
ENST00000409048.1:c.*32G>A	ENSP00000386679.1:n.*32G>A
NM_000312.3:c.*32G>A , LRG_599t1:c.*32G>A	NP_000303.1:n.*32G>A
XM_005263715.3:c.*32G>A	XP_005263772.1:n.*32G>A
XM_005263716.3:c.*32G>A	XP_005263773.1:n.*32G>A
XM_005263717.3:c.*32G>A	XP_005263774.1:n.*32G>A
XR_923313.1:n.1332-714C>T
XM_005263717.4:c.*32G>A	XP_005263774.1:n.*32G>A
XM_017004505.1:c.*32G>A	XP_016859994.1:n.*32G>A
XM_024453002.1:c.*32G>A	XP_024308770.1:n.*32G>A
XM_024453003.1:c.*32G>A	XP_024308771.1:n.*32G>A
XM_024453004.1:c.*32G>A	XP_024308772.1:n.*32G>A
XM_024453005.1:c.*32G>A	XP_024308773.1:n.*32G>A
XM_024453006.1:c.*32G>A	XP_024308774.1:n.*32G>A
XR_001739705.1:n.3607-714C>T
XR_923313.2:n.4043-714C>T
NM_000312.4:c.*32G>A MANE Select	NP_000303.1:n.*32G>A
NM_001375602.1:c.*32G>A	NP_001362531.1:n.*32G>A
NM_001375603.1:c.*32G>A	NP_001362532.1:n.*32G>A
NM_001375604.1:c.*32G>A	NP_001362533.1:n.*32G>A
NM_001375605.1:c.*32G>A	NP_001362534.1:n.*32G>A
NM_001375606.1:c.*32G>A	NP_001362535.1:n.*32G>A
NM_001375607.1:c.*32G>A	NP_001362536.1:n.*32G>A
NM_001375608.1:c.*32G>A	NP_001362537.1:n.*32G>A
NM_001375609.1:c.*32G>A	NP_001362538.1:n.*32G>A
NM_001375610.1:c.*32G>A	NP_001362539.1:n.*32G>A
NM_001375611.1:c.*32G>A	NP_001362540.1:n.*32G>A
NM_001375613.1:c.*32G>A	NP_001362542.1:n.*32G>A