Canonical Allele Identifier: CA823929334

Gene: C2 C2-AS1

Linked Data

• dbSNP Id: rs1256166050
• gnomAD v3: 6-31938141-G-T
• gnomAD v4: 6-31938141-G-T
• MyVariant Identifiers: chr6:g.31905918G>T (hg19) ; chr6:g.31938141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31938141G>T , CM000668.2:g.31938141G>T	GRCh38
NC_000006.11:g.31905918G>T , CM000668.1:g.31905918G>T	GRCh37
NC_000006.10:g.32013897G>T	NCBI36
NG_011730.1:g.15653G>T , LRG_26:g.15653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.943+682G>T (C2)	ENSP00000391354.3:n.943+682G>T
ENST00000452323.7:c.487+682G>T (C2)	ENSP00000392322.2:n.487+682G>T
ENST00000468407.2:c.1129+682G>T (C2)	ENSP00000512075.1:n.1129+682G>T
ENST00000497706.6:c.490+682G>T (C2)	ENSP00000417482.2:n.490+682G>T
ENST00000695637.1:c.724+682G>T (C2)	ENSP00000512074.1:n.724+682G>T
ENST00000695638.1:c.1129+682G>T (C2)	ENSP00000512076.1:n.1129+682G>T
ENST00000695644.1:c.733+682G>T (C2)	ENSP00000512079.1:n.733+682G>T
ENST00000299367.10:c.1129+682G>T (C2) MANE Select	ENSP00000299367.5:n.1129+682G>T
ENST00000299367.9:c.1129+682G>T (C2)	ENSP00000299367.5:n.1129+682G>T
ENST00000383177.7:c.450+682G>T (C2)
ENST00000442278.6:c.733+682G>T (C2)	ENSP00000395683.2:n.733+682G>T
ENST00000452323.6:c.487+682G>T (C2)	ENSP00000392322.2:n.487+682G>T
ENST00000456570.5:c.670+682G>T	ENSP00000410815.1:n.670+682G>T
ENST00000469372.5:c.391+682G>T (C2)	ENSP00000418923.1:n.391+682G>T
ENST00000477310.1:c.583+682G>T	ENSP00000418996.1:n.583+682G>T
ENST00000482060.5:c.*842+682G>T (C2)	ENSP00000418332.1:n.*842+682G>T
ENST00000485690.5:c.297+682G>T (C2)
ENST00000486124.5:n.1405+682G>T (C2)
ENST00000497706.5:c.490+682G>T (C2)	ENSP00000417482.1:n.490+682G>T
NM_000063.5:c.1129+682G>T (C2)	NP_000054.2:n.1129+682G>T
NM_001145903.2:c.733+682G>T (C2)	NP_001139375.1:n.733+682G>T
NM_001178063.2:c.487+682G>T (C2)	NP_001171534.1:n.487+682G>T
NM_001282457.1:c.391+682G>T (C2)	NP_001269386.1:n.391+682G>T
NM_001282458.1:c.1042+682G>T (C2)	NP_001269387.1:n.1042+682G>T
NR_104191.1:n.541-2739C>A (C2-AS1)
NM_000063.6:c.1129+682G>T (C2) MANE Select	NP_000054.2:n.1129+682G>T
NM_001145903.3:c.733+682G>T (C2)	NP_001139375.1:n.733+682G>T
NM_001282457.2:c.391+682G>T (C2)	NP_001269386.1:n.391+682G>T
NM_001282458.2:c.1042+682G>T (C2)	NP_001269387.1:n.1042+682G>T
NM_001178063.3:c.487+682G>T (C2)	NP_001171534.1:n.487+682G>T