Canonical Allele Identifier: CA449679902

Gene: C2

Linked Data

• ClinVar Variation Id: 1999474
• ClinVar RCV Id: RCV002797135
• MyVariant Identifiers: chr6:g.31910851G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943074G>A , CM000668.2:g.31943074G>A	GRCh38
NC_000006.11:g.31910851G>A , CM000668.1:g.31910851G>A	GRCh37
NC_000006.10:g.32018830G>A	NCBI36
NG_008191.1:g.2131G>A , LRG_136:g.2131G>A
NG_011730.1:g.20586G>A , LRG_26:g.20586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1149G>A	ENSP00000391354.3:p.Leu383=
ENST00000452323.7:c.693G>A	ENSP00000392322.2:p.Leu231=
ENST00000468407.2:c.1335G>A	ENSP00000512075.1:p.Leu445=
ENST00000497706.6:c.696G>A	ENSP00000417482.2:p.Leu232=
ENST00000695637.1:c.930G>A	ENSP00000512074.1:p.Leu310=
ENST00000695638.1:c.1335G>A	ENSP00000512076.1:p.Leu445=
ENST00000695644.1:c.939G>A	ENSP00000512079.1:p.Leu313=
ENST00000695645.1:n.705G>A
ENST00000695646.1:n.807G>A
ENST00000299367.10:c.1335G>A MANE Select	ENSP00000299367.5:p.Leu445=
ENST00000299367.9:c.1335G>A	ENSP00000299367.5:p.Leu445=
ENST00000383177.7:c.656G>A
ENST00000442278.6:c.939G>A	ENSP00000395683.2:p.Leu313=
ENST00000452323.6:c.693G>A	ENSP00000392322.2:p.Leu231=
ENST00000456570.5:c.876G>A	ENSP00000410815.1:p.Leu292=
ENST00000469372.5:c.597G>A	ENSP00000418923.1:p.Leu199=
ENST00000477310.1:c.674-151G>A	ENSP00000418996.1:n.674-151G>A
ENST00000482060.5:c.*1048G>A	ENSP00000418332.1:n.*1048G>A
ENST00000485690.5:c.547G>A
ENST00000486124.5:n.1611G>A
ENST00000497706.5:c.696G>A	ENSP00000417482.1:p.Leu232=
NM_000063.5:c.1335G>A	NP_000054.2:p.Leu445=
NM_001145903.2:c.939G>A	NP_001139375.1:p.Leu313=
NM_001178063.2:c.693G>A	NP_001171534.1:p.Leu231=
NM_001282457.1:c.597G>A	NP_001269386.1:p.Leu199=
NM_001282458.1:c.1248G>A	NP_001269387.1:p.Leu416=
NM_000063.6:c.1335G>A MANE Select	NP_000054.2:p.Leu445=
NM_001145903.3:c.939G>A	NP_001139375.1:p.Leu313=
NM_001282457.2:c.597G>A	NP_001269386.1:p.Leu199=
NM_001282458.2:c.1248G>A	NP_001269387.1:p.Leu416=
NM_001178063.3:c.693G>A	NP_001171534.1:p.Leu231=