Canonical Allele Identifier: CA348401636

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183780A>T (hg19) ; chr2:g.127426204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426204A>T , CM000664.2:g.127426204A>T	GRCh38
NC_000002.11:g.128183780A>T , CM000664.1:g.128183780A>T	GRCh37
NC_000002.10:g.127900250A>T	NCBI36
NG_016323.1:g.12785A>T , LRG_599:g.12785A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.655A>T MANE Select	ENSP00000234071.4:p.Arg219Trp
ENST00000234071.7:c.655A>T	ENSP00000234071.3:p.Arg219Trp
ENST00000402125.2:c.121-2153A>T
ENST00000409048.1:c.757A>T	ENSP00000386679.1:p.Arg253Trp
ENST00000464089.1:n.241A>T
NM_000312.3:c.655A>T , LRG_599t1:c.655A>T	NP_000303.1:p.Arg219Trp
XM_005263715.3:c.838A>T	XP_005263772.1:p.Arg280Trp
XM_005263716.3:c.820A>T	XP_005263773.1:p.Arg274Trp
XM_005263717.3:c.718A>T	XP_005263774.1:p.Arg240Trp
XM_005263717.4:c.718A>T	XP_005263774.1:p.Arg240Trp
XM_017004505.1:c.898A>T	XP_016859994.1:p.Arg300Trp
XM_024453002.1:c.1000A>T	XP_024308770.1:p.Arg334Trp
XM_024453003.1:c.940A>T	XP_024308771.1:p.Arg314Trp
XM_024453004.1:c.838A>T	XP_024308772.1:p.Arg280Trp
XM_024453005.1:c.820A>T	XP_024308773.1:p.Arg274Trp
XM_024453006.1:c.757A>T	XP_024308774.1:p.Arg253Trp
XR_923313.2:n.4381T>A
NM_000312.4:c.655A>T MANE Select	NP_000303.1:p.Arg219Trp
NM_001375602.1:c.838A>T	NP_001362531.1:p.Arg280Trp
NM_001375603.1:c.820A>T	NP_001362532.1:p.Arg274Trp
NM_001375604.1:c.718A>T	NP_001362533.1:p.Arg240Trp
NM_001375605.1:c.757A>T	NP_001362534.1:p.Arg253Trp
NM_001375606.1:c.823A>T	NP_001362535.1:p.Arg275Trp
NM_001375607.1:c.841A>T	NP_001362536.1:p.Arg281Trp
NM_001375608.1:c.598A>T	NP_001362537.1:p.Arg200Trp
NM_001375609.1:c.631A>T	NP_001362538.1:p.Arg211Trp
NM_001375610.1:c.649A>T	NP_001362539.1:p.Arg217Trp
NM_001375611.1:c.655A>T	NP_001362540.1:p.Arg219Trp
NM_001375613.1:c.655A>T	NP_001362542.1:p.Arg219Trp