Canonical Allele Identifier: CA658682646

Gene: CR2

Linked Data

• PubMed: PMID:17360460

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[207454348T>C;207472977G>A;207473117G>A] , CM000663.2:g.[207454348T>C;207472977G>A;207473117G>A]	GRCh38
NC_000001.10:g.[207627693T>C;207646322G>A;207646462G>A] , CM000663.1:g.[207627693T>C;207646322G>A;207646462G>A]	GRCh37
NC_000001.9:g.[205694316T>C;205712945G>A;205713085G>A]	NCBI36
NG_013006.1:g.[5049T>C;23678G>A;23818G>A] , LRG_348:g.[5049T>C;23678G>A;23818G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367057.8:c.[-71T>C;1776G>A;1916G>A] MANE Select	ENSP00000356024.3:p.[Leu592=;Ser639Asn]
ENST00000367057.7:c.[-71T>C;1776G>A;1916G>A]	ENSP00000356024.3:p.[Leu592=;Ser639Asn]
ENST00000367058.7:c.[-71T>C;1776G>A;1916G>A]	ENSP00000356025.3:p.[Leu592=;Ser639Asn]
ENST00000367059.3:c.[-71T>C;1776G>A;1916G>A]	ENSP00000356026.3:p.[Leu592=;Ser639Asn]
NM_001006658.2:c.[-71T>C;1776G>A;1916G>A] , LRG_348t1:c.[-71T>C;1776G>A;1916G>A]	NP_001006659.1:p.[Leu592=;Ser639Asn]
NM_001877.4:c.[-71T>C;1776G>A;1916G>A]	NP_001868.2:p.[Leu592=;Ser639Asn]
NM_001006658.3:c.[-71T>C;1776G>A;1916G>A] MANE Select	NP_001006659.1:p.[Leu592=;Ser639Asn]
NM_001877.5:c.[-71T>C;1776G>A;1916G>A]	NP_001868.2:p.[Leu592=;Ser639Asn]