Canonical Allele Identifier: CA348400982

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183670C>A (hg19) ; chr2:g.127426094C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426094C>A , CM000664.2:g.127426094C>A	GRCh38
NC_000002.11:g.128183670C>A , CM000664.1:g.128183670C>A	GRCh37
NC_000002.10:g.127900140C>A	NCBI36
NG_016323.1:g.12675C>A , LRG_599:g.12675C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.545C>A MANE Select	ENSP00000234071.4:p.Pro182His
ENST00000234071.7:c.545C>A	ENSP00000234071.3:p.Pro182His
ENST00000402125.2:c.121-2263C>A
ENST00000409048.1:c.647C>A	ENSP00000386679.1:p.Pro216His
ENST00000442644.5:c.488C>A	ENSP00000411241.1:p.Pro163His
ENST00000464089.1:n.131C>A
NM_000312.3:c.545C>A , LRG_599t1:c.545C>A	NP_000303.1:p.Pro182His
XM_005263715.3:c.728C>A	XP_005263772.1:p.Pro243His
XM_005263716.3:c.710C>A	XP_005263773.1:p.Pro237His
XM_005263717.3:c.608C>A	XP_005263774.1:p.Pro203His
XM_005263717.4:c.608C>A	XP_005263774.1:p.Pro203His
XM_017004505.1:c.788C>A	XP_016859994.1:p.Pro263His
XM_024453002.1:c.890C>A	XP_024308770.1:p.Pro297His
XM_024453003.1:c.830C>A	XP_024308771.1:p.Pro277His
XM_024453004.1:c.728C>A	XP_024308772.1:p.Pro243His
XM_024453005.1:c.710C>A	XP_024308773.1:p.Pro237His
XM_024453006.1:c.647C>A	XP_024308774.1:p.Pro216His
XR_923313.2:n.4491G>T
NM_000312.4:c.545C>A MANE Select	NP_000303.1:p.Pro182His
NM_001375602.1:c.728C>A	NP_001362531.1:p.Pro243His
NM_001375603.1:c.710C>A	NP_001362532.1:p.Pro237His
NM_001375604.1:c.608C>A	NP_001362533.1:p.Pro203His
NM_001375605.1:c.647C>A	NP_001362534.1:p.Pro216His
NM_001375606.1:c.713C>A	NP_001362535.1:p.Pro238His
NM_001375607.1:c.731C>A	NP_001362536.1:p.Pro244His
NM_001375608.1:c.488C>A	NP_001362537.1:p.Pro163His
NM_001375609.1:c.521C>A	NP_001362538.1:p.Pro174His
NM_001375610.1:c.539C>A	NP_001362539.1:p.Pro180His
NM_001375611.1:c.545C>A	NP_001362540.1:p.Pro182His
NM_001375613.1:c.545C>A	NP_001362542.1:p.Pro182His