Canonical Allele Identifier: CA7528754

Gene: CATSPER2 STRC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43636142C>G , CM000677.2:g.43636142C>G	GRCh38
NC_000015.9:g.43928340C>G , CM000677.1:g.43928340C>G	GRCh37
NC_000015.8:g.41715632C>G	NCBI36
NG_009283.1:g.17700G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_172095.4:c.920G>C (CATSPER2) MANE Select	NP_742093.1:p.Trp307Ser
ENST00000396879.8:c.920G>C (CATSPER2) MANE Select	ENSP00000380088.3:p.Trp307Ser
NM_001282309.1:c.920G>C (CATSPER2)	NP_001269238.1:p.Trp307Ser
NM_001282309.2:c.920G>C (CATSPER2)	NP_001269238.1:p.Trp307Ser
NM_001282309.3:c.920G>C (CATSPER2)	NP_001269238.1:p.Trp307Ser
NM_001282310.1:c.938G>C (CATSPER2)	NP_001269239.1:p.Trp313Ser
NM_001282310.2:c.938G>C (CATSPER2)	NP_001269239.1:p.Trp313Ser
NM_054020.3:c.920G>C (CATSPER2)	NP_473361.1:p.Trp307Ser
NM_172095.2:c.920G>C (CATSPER2)	NP_742093.1:p.Trp307Ser
NM_172095.3:c.920G>C (CATSPER2)	NP_742093.1:p.Trp307Ser
NR_110319.1:n.922G>C (CATSPER2)
NR_146339.1:n.4570G>C
ENST00000321596.5:c.920G>C (CATSPER2)	ENSP00000321463.4:p.Trp307Ser
ENST00000321596.6:c.920G>C (CATSPER2)	ENSP00000321463.5:p.Trp307Ser
ENST00000381761.5:c.938G>C (CATSPER2)	ENSP00000371180.1:p.Trp313Ser
ENST00000381761.6:c.938G>C (CATSPER2)	ENSP00000371180.1:p.Trp313Ser
ENST00000396879.5:c.920G>C (CATSPER2)	ENSP00000380088.1:p.Trp307Ser
ENST00000433380.5:c.920G>C (CATSPER2)	ENSP00000389746.1:p.Trp307Ser
ENST00000469461.5:n.1171G>C (CATSPER2)
ENST00000469461.6:n.1171G>C (CATSPER2)
XM_011521204.1:c.920G>C (CATSPER2)	XP_011519506.1:p.Trp307Ser
XM_011521277.1:c.442-17372G>C (STRC)	XP_011519579.1:n.442-17372G>C