Canonical Allele Identifier: CA428618171

Gene: PROC

Linked Data

• gnomAD v4: 2-127426086-G-T
• MyVariant Identifiers: chr2:g.128183662G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426086G>T , CM000664.2:g.127426086G>T	GRCh38
NC_000002.11:g.128183662G>T , CM000664.1:g.128183662G>T	GRCh37
NC_000002.10:g.127900132G>T	NCBI36
NG_016323.1:g.12667G>T , LRG_599:g.12667G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.537G>T MANE Select	ENSP00000234071.4:p.Val179=
ENST00000234071.7:c.537G>T	ENSP00000234071.3:p.Val179=
ENST00000402125.2:c.121-2271G>T
ENST00000409048.1:c.639G>T	ENSP00000386679.1:p.Val213=
ENST00000442644.5:c.480G>T	ENSP00000411241.1:p.Val160=
ENST00000464089.1:n.123G>T
NM_000312.3:c.537G>T , LRG_599t1:c.537G>T	NP_000303.1:p.Val179=
XM_005263715.3:c.720G>T	XP_005263772.1:p.Val240=
XM_005263716.3:c.702G>T	XP_005263773.1:p.Val234=
XM_005263717.3:c.600G>T	XP_005263774.1:p.Val200=
XM_005263717.4:c.600G>T	XP_005263774.1:p.Val200=
XM_017004505.1:c.780G>T	XP_016859994.1:p.Val260=
XM_024453002.1:c.882G>T	XP_024308770.1:p.Val294=
XM_024453003.1:c.822G>T	XP_024308771.1:p.Val274=
XM_024453004.1:c.720G>T	XP_024308772.1:p.Val240=
XM_024453005.1:c.702G>T	XP_024308773.1:p.Val234=
XM_024453006.1:c.639G>T	XP_024308774.1:p.Val213=
XR_923313.2:n.4499C>A
NM_000312.4:c.537G>T MANE Select	NP_000303.1:p.Val179=
NM_001375602.1:c.720G>T	NP_001362531.1:p.Val240=
NM_001375603.1:c.702G>T	NP_001362532.1:p.Val234=
NM_001375604.1:c.600G>T	NP_001362533.1:p.Val200=
NM_001375605.1:c.639G>T	NP_001362534.1:p.Val213=
NM_001375606.1:c.705G>T	NP_001362535.1:p.Val235=
NM_001375607.1:c.723G>T	NP_001362536.1:p.Val241=
NM_001375608.1:c.480G>T	NP_001362537.1:p.Val160=
NM_001375609.1:c.513G>T	NP_001362538.1:p.Val171=
NM_001375610.1:c.531G>T	NP_001362539.1:p.Val177=
NM_001375611.1:c.537G>T	NP_001362540.1:p.Val179=
NM_001375613.1:c.537G>T	NP_001362542.1:p.Val179=