Canonical Allele Identifier: CA348401479

Gene: PROC

Linked Data

• ClinVar Variation Id: 2682747
• ClinVar RCV Id: RCV003481614
• dbSNP Id: rs1216244436
• gnomAD v2: 2-128183752-T-A
• gnomAD v4: 2-127426176-T-A
• MyVariant Identifiers: chr2:g.128183752T>A (hg19) ; chr2:g.128183752_128183753delinsAC (hg19) ; chr2:g.127426176T>A (hg38) ; chr2:g.127426176_127426177delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426176T>A , CM000664.2:g.127426176T>A	GRCh38
NC_000002.11:g.128183752T>A , CM000664.1:g.128183752T>A	GRCh37
NC_000002.10:g.127900222T>A	NCBI36
NG_016323.1:g.12757T>A , LRG_599:g.12757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.627T>A MANE Select	ENSP00000234071.4:p.Asp209Glu
ENST00000234071.7:c.627T>A	ENSP00000234071.3:p.Asp209Glu
ENST00000402125.2:c.121-2181T>A
ENST00000409048.1:c.729T>A	ENSP00000386679.1:p.Asp243Glu
ENST00000464089.1:n.213T>A
NM_000312.3:c.627T>A , LRG_599t1:c.627T>A	NP_000303.1:p.Asp209Glu
XM_005263715.3:c.810T>A	XP_005263772.1:p.Asp270Glu
XM_005263716.3:c.792T>A	XP_005263773.1:p.Asp264Glu
XM_005263717.3:c.690T>A	XP_005263774.1:p.Asp230Glu
XM_005263717.4:c.690T>A	XP_005263774.1:p.Asp230Glu
XM_017004505.1:c.870T>A	XP_016859994.1:p.Asp290Glu
XM_024453002.1:c.972T>A	XP_024308770.1:p.Asp324Glu
XM_024453003.1:c.912T>A	XP_024308771.1:p.Asp304Glu
XM_024453004.1:c.810T>A	XP_024308772.1:p.Asp270Glu
XM_024453005.1:c.792T>A	XP_024308773.1:p.Asp264Glu
XM_024453006.1:c.729T>A	XP_024308774.1:p.Asp243Glu
XR_923313.2:n.4409A>T
NM_000312.4:c.627T>A MANE Select	NP_000303.1:p.Asp209Glu
NM_001375602.1:c.810T>A	NP_001362531.1:p.Asp270Glu
NM_001375603.1:c.792T>A	NP_001362532.1:p.Asp264Glu
NM_001375604.1:c.690T>A	NP_001362533.1:p.Asp230Glu
NM_001375605.1:c.729T>A	NP_001362534.1:p.Asp243Glu
NM_001375606.1:c.795T>A	NP_001362535.1:p.Asp265Glu
NM_001375607.1:c.813T>A	NP_001362536.1:p.Asp271Glu
NM_001375608.1:c.570T>A	NP_001362537.1:p.Asp190Glu
NM_001375609.1:c.603T>A	NP_001362538.1:p.Asp201Glu
NM_001375610.1:c.621T>A	NP_001362539.1:p.Asp207Glu
NM_001375611.1:c.627T>A	NP_001362540.1:p.Asp209Glu
NM_001375613.1:c.627T>A	NP_001362542.1:p.Asp209Glu