Canonical Allele Identifier: CA348401557

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183771A>T (hg19) ; chr2:g.127426195A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426195A>T , CM000664.2:g.127426195A>T	GRCh38
NC_000002.11:g.128183771A>T , CM000664.1:g.128183771A>T	GRCh37
NC_000002.10:g.127900241A>T	NCBI36
NG_016323.1:g.12776A>T , LRG_599:g.12776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.646A>T MANE Select	ENSP00000234071.4:p.Lys216Ter
ENST00000234071.7:c.646A>T	ENSP00000234071.3:p.Lys216Ter
ENST00000402125.2:c.121-2162A>T
ENST00000409048.1:c.748A>T	ENSP00000386679.1:p.Lys250Ter
ENST00000464089.1:n.232A>T
NM_000312.3:c.646A>T , LRG_599t1:c.646A>T	NP_000303.1:p.Lys216Ter
XM_005263715.3:c.829A>T	XP_005263772.1:p.Lys277Ter
XM_005263716.3:c.811A>T	XP_005263773.1:p.Lys271Ter
XM_005263717.3:c.709A>T	XP_005263774.1:p.Lys237Ter
XM_005263717.4:c.709A>T	XP_005263774.1:p.Lys237Ter
XM_017004505.1:c.889A>T	XP_016859994.1:p.Lys297Ter
XM_024453002.1:c.991A>T	XP_024308770.1:p.Lys331Ter
XM_024453003.1:c.931A>T	XP_024308771.1:p.Lys311Ter
XM_024453004.1:c.829A>T	XP_024308772.1:p.Lys277Ter
XM_024453005.1:c.811A>T	XP_024308773.1:p.Lys271Ter
XM_024453006.1:c.748A>T	XP_024308774.1:p.Lys250Ter
XR_923313.2:n.4390T>A
NM_000312.4:c.646A>T MANE Select	NP_000303.1:p.Lys216Ter
NM_001375602.1:c.829A>T	NP_001362531.1:p.Lys277Ter
NM_001375603.1:c.811A>T	NP_001362532.1:p.Lys271Ter
NM_001375604.1:c.709A>T	NP_001362533.1:p.Lys237Ter
NM_001375605.1:c.748A>T	NP_001362534.1:p.Lys250Ter
NM_001375606.1:c.814A>T	NP_001362535.1:p.Lys272Ter
NM_001375607.1:c.832A>T	NP_001362536.1:p.Lys278Ter
NM_001375608.1:c.589A>T	NP_001362537.1:p.Lys197Ter
NM_001375609.1:c.622A>T	NP_001362538.1:p.Lys208Ter
NM_001375610.1:c.640A>T	NP_001362539.1:p.Lys214Ter
NM_001375611.1:c.646A>T	NP_001362540.1:p.Lys216Ter
NM_001375613.1:c.646A>T	NP_001362542.1:p.Lys216Ter