Canonical Allele Identifier: CA363497131

Gene: C2

Linked Data

• dbSNP Id: rs1317838643
• gnomAD v2: 6-31901666-T-C
• gnomAD v4: 6-31933889-T-C
• MyVariant Identifiers: chr6:g.31901666T>C (hg19) ; chr6:g.31933889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933889T>C , CM000668.2:g.31933889T>C	GRCh38
NC_000006.11:g.31901666T>C , CM000668.1:g.31901666T>C	GRCh37
NC_000006.10:g.32009645T>C	NCBI36
NG_011730.1:g.11401T>C , LRG_26:g.11401T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.453T>C	ENSP00000391354.3:p.Pro151=
ENST00000452323.7:c.270T>C	ENSP00000392322.2:p.Pro90=
ENST00000468407.2:c.639T>C	ENSP00000512075.1:p.Pro213=
ENST00000497706.6:c.134T>C	ENSP00000417482.2:p.Leu45Pro
ENST00000695637.1:c.234T>C	ENSP00000512074.1:p.Pro78=
ENST00000695638.1:c.639T>C	ENSP00000512076.1:p.Pro213=
ENST00000695639.1:n.442T>C
ENST00000695640.1:n.577T>C
ENST00000695644.1:c.243T>C	ENSP00000512079.1:p.Pro81=
ENST00000299367.10:c.639T>C MANE Select	ENSP00000299367.5:p.Pro213=
ENST00000299367.9:c.639T>C	ENSP00000299367.5:p.Pro213=
ENST00000383177.7:c.233T>C
ENST00000411571.6:c.134T>C	ENSP00000388727.2:p.Leu45Pro
ENST00000418949.6:c.639T>C	ENSP00000406190.2:p.Pro213=
ENST00000442278.6:c.243T>C	ENSP00000395683.2:p.Pro81=
ENST00000447952.6:c.453T>C	ENSP00000391354.2:p.Pro151=
ENST00000452202.5:c.270T>C	ENSP00000406121.1:p.Pro90=
ENST00000452323.6:c.270T>C	ENSP00000392322.2:p.Pro90=
ENST00000456570.5:c.453T>C	ENSP00000410815.1:p.Pro151=
ENST00000469372.5:c.111+106T>C	ENSP00000418923.1:n.111+106T>C
ENST00000477310.1:c.443-3430T>C	ENSP00000418996.1:n.443-3430T>C
ENST00000482060.5:c.*352T>C	ENSP00000418332.1:n.*352T>C
ENST00000484636.1:c.134T>C	ENSP00000420305.1:p.Leu45Pro
ENST00000494905.1:c.216T>C	ENSP00000419048.1:p.Pro72=
ENST00000497706.5:c.134T>C	ENSP00000417482.1:p.Leu45Pro
NM_000063.5:c.639T>C	NP_000054.2:p.Pro213=
NM_001145903.2:c.243T>C	NP_001139375.1:p.Pro81=
NM_001178063.2:c.270T>C	NP_001171534.1:p.Pro90=
NM_001282457.1:c.111+106T>C	NP_001269386.1:n.111+106T>C
NM_001282458.1:c.552T>C	NP_001269387.1:p.Pro184=
NM_001282459.1:c.639T>C	NP_001269388.1:p.Pro213=
NM_000063.6:c.639T>C MANE Select	NP_000054.2:p.Pro213=
NM_001145903.3:c.243T>C	NP_001139375.1:p.Pro81=
NM_001282457.2:c.111+106T>C	NP_001269386.1:n.111+106T>C
NM_001282458.2:c.552T>C	NP_001269387.1:p.Pro184=
NM_001282459.2:c.639T>C	NP_001269388.1:p.Pro213=
NM_001178063.3:c.270T>C	NP_001171534.1:p.Pro90=