Canonical Allele Identifier: CA348404376

Gene: PROC

Linked Data

• dbSNP Id: rs1433588212
• gnomAD v2: 2-128185971-G-A
• gnomAD v3: 2-127428395-G-A
• gnomAD v4: 2-127428395-G-A
• MyVariant Identifiers: chr2:g.128185971G>A (hg19) ; chr2:g.127428395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428395G>A , CM000664.2:g.127428395G>A	GRCh38
NC_000002.11:g.128185971G>A , CM000664.1:g.128185971G>A	GRCh37
NC_000002.10:g.127902441G>A	NCBI36
NG_016323.1:g.14976G>A , LRG_599:g.14976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.835G>A MANE Select	ENSP00000234071.4:p.Asp279Asn
ENST00000234071.7:c.835G>A	ENSP00000234071.3:p.Asp279Asn
ENST00000402125.2:c.159G>A
ENST00000409048.1:c.937G>A	ENSP00000386679.1:p.Asp313Asn
NM_000312.3:c.835G>A , LRG_599t1:c.835G>A	NP_000303.1:p.Asp279Asn
XM_005263715.3:c.1018G>A	XP_005263772.1:p.Asp340Asn
XM_005263716.3:c.1000G>A	XP_005263773.1:p.Asp334Asn
XM_005263717.3:c.898G>A	XP_005263774.1:p.Asp300Asn
XR_923313.1:n.1332-131C>T
XM_005263717.4:c.898G>A	XP_005263774.1:p.Asp300Asn
XM_017004505.1:c.1078G>A	XP_016859994.1:p.Asp360Asn
XM_024453002.1:c.1180G>A	XP_024308770.1:p.Asp394Asn
XM_024453003.1:c.1120G>A	XP_024308771.1:p.Asp374Asn
XM_024453004.1:c.1018G>A	XP_024308772.1:p.Asp340Asn
XM_024453005.1:c.1000G>A	XP_024308773.1:p.Asp334Asn
XM_024453006.1:c.937G>A	XP_024308774.1:p.Asp313Asn
XR_001739705.1:n.3607-131C>T
XR_923313.2:n.4043-131C>T
NM_000312.4:c.835G>A MANE Select	NP_000303.1:p.Asp279Asn
NM_001375602.1:c.1018G>A	NP_001362531.1:p.Asp340Asn
NM_001375603.1:c.1000G>A	NP_001362532.1:p.Asp334Asn
NM_001375604.1:c.898G>A	NP_001362533.1:p.Asp300Asn
NM_001375605.1:c.937G>A	NP_001362534.1:p.Asp313Asn
NM_001375606.1:c.1003G>A	NP_001362535.1:p.Asp335Asn
NM_001375607.1:c.1021G>A	NP_001362536.1:p.Asp341Asn
NM_001375608.1:c.778G>A	NP_001362537.1:p.Asp260Asn
NM_001375609.1:c.811G>A	NP_001362538.1:p.Asp271Asn
NM_001375610.1:c.829G>A	NP_001362539.1:p.Asp277Asn
NM_001375611.1:c.835G>A	NP_001362540.1:p.Asp279Asn
NM_001375613.1:c.835G>A	NP_001362542.1:p.Asp279Asn