Canonical Allele Identifier: CA348401522

Gene: PROC

Linked Data

• gnomAD v4: 2-127426189-G-A
• MyVariant Identifiers: chr2:g.128183765G>A (hg19) ; chr2:g.127426189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426189G>A , CM000664.2:g.127426189G>A	GRCh38
NC_000002.11:g.128183765G>A , CM000664.1:g.128183765G>A	GRCh37
NC_000002.10:g.127900235G>A	NCBI36
NG_016323.1:g.12770G>A , LRG_599:g.12770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.640G>A MANE Select	ENSP00000234071.4:p.Asp214Asn
ENST00000234071.7:c.640G>A	ENSP00000234071.3:p.Asp214Asn
ENST00000402125.2:c.121-2168G>A
ENST00000409048.1:c.742G>A	ENSP00000386679.1:p.Asp248Asn
ENST00000464089.1:n.226G>A
NM_000312.3:c.640G>A , LRG_599t1:c.640G>A	NP_000303.1:p.Asp214Asn
XM_005263715.3:c.823G>A	XP_005263772.1:p.Asp275Asn
XM_005263716.3:c.805G>A	XP_005263773.1:p.Asp269Asn
XM_005263717.3:c.703G>A	XP_005263774.1:p.Asp235Asn
XM_005263717.4:c.703G>A	XP_005263774.1:p.Asp235Asn
XM_017004505.1:c.883G>A	XP_016859994.1:p.Asp295Asn
XM_024453002.1:c.985G>A	XP_024308770.1:p.Asp329Asn
XM_024453003.1:c.925G>A	XP_024308771.1:p.Asp309Asn
XM_024453004.1:c.823G>A	XP_024308772.1:p.Asp275Asn
XM_024453005.1:c.805G>A	XP_024308773.1:p.Asp269Asn
XM_024453006.1:c.742G>A	XP_024308774.1:p.Asp248Asn
XR_923313.2:n.4396C>T
NM_000312.4:c.640G>A MANE Select	NP_000303.1:p.Asp214Asn
NM_001375602.1:c.823G>A	NP_001362531.1:p.Asp275Asn
NM_001375603.1:c.805G>A	NP_001362532.1:p.Asp269Asn
NM_001375604.1:c.703G>A	NP_001362533.1:p.Asp235Asn
NM_001375605.1:c.742G>A	NP_001362534.1:p.Asp248Asn
NM_001375606.1:c.808G>A	NP_001362535.1:p.Asp270Asn
NM_001375607.1:c.826G>A	NP_001362536.1:p.Asp276Asn
NM_001375608.1:c.583G>A	NP_001362537.1:p.Asp195Asn
NM_001375609.1:c.616G>A	NP_001362538.1:p.Asp206Asn
NM_001375610.1:c.634G>A	NP_001362539.1:p.Asp212Asn
NM_001375611.1:c.640G>A	NP_001362540.1:p.Asp214Asn
NM_001375613.1:c.640G>A	NP_001362542.1:p.Asp214Asn