Canonical Allele Identifier: CA348404660

Gene: PROC

Linked Data

• gnomAD v4: 2-127428452-A-G
• MyVariant Identifiers: chr2:g.128186028A>G (hg19) ; chr2:g.127428452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428452A>G , CM000664.2:g.127428452A>G	GRCh38
NC_000002.11:g.128186028A>G , CM000664.1:g.128186028A>G	GRCh37
NC_000002.10:g.127902498A>G	NCBI36
NG_016323.1:g.15033A>G , LRG_599:g.15033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.892A>G MANE Select	ENSP00000234071.4:p.Asn298Asp
ENST00000234071.7:c.892A>G	ENSP00000234071.3:p.Asn298Asp
ENST00000402125.2:c.216A>G
ENST00000409048.1:c.994A>G	ENSP00000386679.1:p.Asn332Asp
NM_000312.3:c.892A>G , LRG_599t1:c.892A>G	NP_000303.1:p.Asn298Asp
XM_005263715.3:c.1075A>G	XP_005263772.1:p.Asn359Asp
XM_005263716.3:c.1057A>G	XP_005263773.1:p.Asn353Asp
XM_005263717.3:c.955A>G	XP_005263774.1:p.Asn319Asp
XR_923313.1:n.1332-188T>C
XM_005263717.4:c.955A>G	XP_005263774.1:p.Asn319Asp
XM_017004505.1:c.1135A>G	XP_016859994.1:p.Asn379Asp
XM_024453002.1:c.1237A>G	XP_024308770.1:p.Asn413Asp
XM_024453003.1:c.1177A>G	XP_024308771.1:p.Asn393Asp
XM_024453004.1:c.1075A>G	XP_024308772.1:p.Asn359Asp
XM_024453005.1:c.1057A>G	XP_024308773.1:p.Asn353Asp
XM_024453006.1:c.994A>G	XP_024308774.1:p.Asn332Asp
XR_001739705.1:n.3607-188T>C
XR_923313.2:n.4043-188T>C
NM_000312.4:c.892A>G MANE Select	NP_000303.1:p.Asn298Asp
NM_001375602.1:c.1075A>G	NP_001362531.1:p.Asn359Asp
NM_001375603.1:c.1057A>G	NP_001362532.1:p.Asn353Asp
NM_001375604.1:c.955A>G	NP_001362533.1:p.Asn319Asp
NM_001375605.1:c.994A>G	NP_001362534.1:p.Asn332Asp
NM_001375606.1:c.1060A>G	NP_001362535.1:p.Asn354Asp
NM_001375607.1:c.1078A>G	NP_001362536.1:p.Asn360Asp
NM_001375608.1:c.835A>G	NP_001362537.1:p.Asn279Asp
NM_001375609.1:c.868A>G	NP_001362538.1:p.Asn290Asp
NM_001375610.1:c.886A>G	NP_001362539.1:p.Asn296Asp
NM_001375611.1:c.892A>G	NP_001362540.1:p.Asn298Asp
NM_001375613.1:c.892A>G	NP_001362542.1:p.Asn298Asp