Canonical Allele Identifier: CA348404245

Gene: PROC

Linked Data

• gnomAD v4: 2-127428365-G-T
• MyVariant Identifiers: chr2:g.128185941G>T (hg19) ; chr2:g.127428365G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428365G>T , CM000664.2:g.127428365G>T	GRCh38
NC_000002.11:g.128185941G>T , CM000664.1:g.128185941G>T	GRCh37
NC_000002.10:g.127902411G>T	NCBI36
NG_016323.1:g.14946G>T , LRG_599:g.14946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.805G>T MANE Select	ENSP00000234071.4:p.Asp269Tyr
ENST00000234071.7:c.805G>T	ENSP00000234071.3:p.Asp269Tyr
ENST00000402125.2:c.129G>T
ENST00000409048.1:c.907G>T	ENSP00000386679.1:p.Asp303Tyr
NM_000312.3:c.805G>T , LRG_599t1:c.805G>T	NP_000303.1:p.Asp269Tyr
XM_005263715.3:c.988G>T	XP_005263772.1:p.Asp330Tyr
XM_005263716.3:c.970G>T	XP_005263773.1:p.Asp324Tyr
XM_005263717.3:c.868G>T	XP_005263774.1:p.Asp290Tyr
XR_923313.1:n.1332-101C>A
XM_005263717.4:c.868G>T	XP_005263774.1:p.Asp290Tyr
XM_017004505.1:c.1048G>T	XP_016859994.1:p.Asp350Tyr
XM_024453002.1:c.1150G>T	XP_024308770.1:p.Asp384Tyr
XM_024453003.1:c.1090G>T	XP_024308771.1:p.Asp364Tyr
XM_024453004.1:c.988G>T	XP_024308772.1:p.Asp330Tyr
XM_024453005.1:c.970G>T	XP_024308773.1:p.Asp324Tyr
XM_024453006.1:c.907G>T	XP_024308774.1:p.Asp303Tyr
XR_001739705.1:n.3607-101C>A
XR_923313.2:n.4043-101C>A
NM_000312.4:c.805G>T MANE Select	NP_000303.1:p.Asp269Tyr
NM_001375602.1:c.988G>T	NP_001362531.1:p.Asp330Tyr
NM_001375603.1:c.970G>T	NP_001362532.1:p.Asp324Tyr
NM_001375604.1:c.868G>T	NP_001362533.1:p.Asp290Tyr
NM_001375605.1:c.907G>T	NP_001362534.1:p.Asp303Tyr
NM_001375606.1:c.973G>T	NP_001362535.1:p.Asp325Tyr
NM_001375607.1:c.991G>T	NP_001362536.1:p.Asp331Tyr
NM_001375608.1:c.748G>T	NP_001362537.1:p.Asp250Tyr
NM_001375609.1:c.781G>T	NP_001362538.1:p.Asp261Tyr
NM_001375610.1:c.799G>T	NP_001362539.1:p.Asp267Tyr
NM_001375611.1:c.805G>T	NP_001362540.1:p.Asp269Tyr
NM_001375613.1:c.805G>T	NP_001362542.1:p.Asp269Tyr