Canonical Allele Identifier: CA363497118

Gene: C2

Linked Data

• gnomAD v4: 6-31933887-C-T
• MyVariant Identifiers: chr6:g.31901664C>T (hg19) ; chr6:g.31933887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933887C>T , CM000668.2:g.31933887C>T	GRCh38
NC_000006.11:g.31901664C>T , CM000668.1:g.31901664C>T	GRCh37
NC_000006.10:g.32009643C>T	NCBI36
NG_011730.1:g.11399C>T , LRG_26:g.11399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.451C>T	ENSP00000391354.3:p.Pro151Ser
ENST00000452323.7:c.268C>T	ENSP00000392322.2:p.Pro90Ser
ENST00000468407.2:c.637C>T	ENSP00000512075.1:p.Pro213Ser
ENST00000497706.6:c.132C>T	ENSP00000417482.2:p.Ser44=
ENST00000695637.1:c.232C>T	ENSP00000512074.1:p.Pro78Ser
ENST00000695638.1:c.637C>T	ENSP00000512076.1:p.Pro213Ser
ENST00000695639.1:n.440C>T
ENST00000695640.1:n.575C>T
ENST00000695644.1:c.241C>T	ENSP00000512079.1:p.Pro81Ser
ENST00000299367.10:c.637C>T MANE Select	ENSP00000299367.5:p.Pro213Ser
ENST00000299367.9:c.637C>T	ENSP00000299367.5:p.Pro213Ser
ENST00000383177.7:c.231C>T
ENST00000411571.6:c.132C>T	ENSP00000388727.2:p.Ser44=
ENST00000418949.6:c.637C>T	ENSP00000406190.2:p.Pro213Ser
ENST00000442278.6:c.241C>T	ENSP00000395683.2:p.Pro81Ser
ENST00000447952.6:c.451C>T	ENSP00000391354.2:p.Pro151Ser
ENST00000452202.5:c.268C>T	ENSP00000406121.1:p.Pro90Ser
ENST00000452323.6:c.268C>T	ENSP00000392322.2:p.Pro90Ser
ENST00000456570.5:c.451C>T	ENSP00000410815.1:p.Pro151Ser
ENST00000469372.5:c.111+104C>T	ENSP00000418923.1:n.111+104C>T
ENST00000477310.1:c.443-3432C>T	ENSP00000418996.1:n.443-3432C>T
ENST00000482060.5:c.*350C>T	ENSP00000418332.1:n.*350C>T
ENST00000484636.1:c.132C>T	ENSP00000420305.1:p.Ser44=
ENST00000494905.1:c.214C>T	ENSP00000419048.1:p.Pro72Ser
ENST00000497706.5:c.132C>T	ENSP00000417482.1:p.Ser44=
NM_000063.5:c.637C>T	NP_000054.2:p.Pro213Ser
NM_001145903.2:c.241C>T	NP_001139375.1:p.Pro81Ser
NM_001178063.2:c.268C>T	NP_001171534.1:p.Pro90Ser
NM_001282457.1:c.111+104C>T	NP_001269386.1:n.111+104C>T
NM_001282458.1:c.550C>T	NP_001269387.1:p.Pro184Ser
NM_001282459.1:c.637C>T	NP_001269388.1:p.Pro213Ser
NM_000063.6:c.637C>T MANE Select	NP_000054.2:p.Pro213Ser
NM_001145903.3:c.241C>T	NP_001139375.1:p.Pro81Ser
NM_001282457.2:c.111+104C>T	NP_001269386.1:n.111+104C>T
NM_001282458.2:c.550C>T	NP_001269387.1:p.Pro184Ser
NM_001282459.2:c.637C>T	NP_001269388.1:p.Pro213Ser
NM_001178063.3:c.268C>T	NP_001171534.1:p.Pro90Ser