Canonical Allele Identifier: CA3727598

Gene: C2 C2-AS1

Linked Data

• ClinVar Variation Id: 356245
• ClinVar RCV Id: RCV000361517 ; RCV000401133 ; RCV000455074 ; RCV001515635
• dbSNP Id: rs1042663
• ExAC: 6:31905130 G / A
• gnomAD v2: 6-31905130-G-A
• gnomAD v3: 6-31937353-G-A
• gnomAD v4: 6-31937353-G-A
• MyVariant Identifiers: chr6:g.31905130G>A (hg19) ; chr6:g.31937353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31937353G>A , CM000668.2:g.31937353G>A	GRCh38
NC_000006.11:g.31905130G>A , CM000668.1:g.31905130G>A	GRCh37
NC_000006.10:g.32013109G>A	NCBI36
NG_011730.1:g.14865G>A , LRG_26:g.14865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.837G>A (C2)	ENSP00000391354.3:p.Ala279=
ENST00000452323.7:c.381G>A (C2)	ENSP00000392322.2:p.Ala127=
ENST00000468407.2:c.1023G>A (C2)	ENSP00000512075.1:p.Ala341=
ENST00000497706.6:c.384G>A (C2)	ENSP00000417482.2:p.Ala128=
ENST00000695637.1:c.618G>A (C2)	ENSP00000512074.1:p.Ala206=
ENST00000695638.1:c.1023G>A (C2)	ENSP00000512076.1:p.Ala341=
ENST00000695644.1:c.627G>A (C2)	ENSP00000512079.1:p.Ala209=
ENST00000299367.10:c.1023G>A (C2) MANE Select	ENSP00000299367.5:p.Ala341=
ENST00000299367.9:c.1023G>A (C2)	ENSP00000299367.5:p.Ala341=
ENST00000383177.7:c.344G>A (C2)
ENST00000411571.6:c.*263G>A (C2)	ENSP00000388727.2:n.*263G>A
ENST00000442278.6:c.627G>A (C2)	ENSP00000395683.2:p.Ala209=
ENST00000452323.6:c.381G>A (C2)	ENSP00000392322.2:p.Ala127=
ENST00000456570.5:c.564G>A	ENSP00000410815.1:p.Ala188=
ENST00000469372.5:c.285G>A (C2)	ENSP00000418923.1:p.Ala95=
ENST00000477310.1:c.477G>A	ENSP00000418996.1:p.Ala159=
ENST00000482060.5:c.*736G>A (C2)	ENSP00000418332.1:n.*736G>A
ENST00000485690.5:c.191G>A (C2)
ENST00000486124.5:n.1299G>A (C2)
ENST00000497706.5:c.384G>A (C2)	ENSP00000417482.1:p.Ala128=
NM_000063.5:c.1023G>A (C2)	NP_000054.2:p.Ala341=
NM_001145903.2:c.627G>A (C2)	NP_001139375.1:p.Ala209=
NM_001178063.2:c.381G>A (C2)	NP_001171534.1:p.Ala127=
NM_001282457.1:c.285G>A (C2)	NP_001269386.1:p.Ala95=
NM_001282458.1:c.936G>A (C2)	NP_001269387.1:p.Ala312=
NR_104191.1:n.541-1951C>T (C2-AS1)
NM_000063.6:c.1023G>A (C2) MANE Select	NP_000054.2:p.Ala341=
NM_001145903.3:c.627G>A (C2)	NP_001139375.1:p.Ala209=
NM_001282457.2:c.285G>A (C2)	NP_001269386.1:p.Ala95=
NM_001282458.2:c.936G>A (C2)	NP_001269387.1:p.Ala312=
NM_001178063.3:c.381G>A (C2)	NP_001171534.1:p.Ala127=