Canonical Allele Identifier: CA580954915

Gene: CHRNA2

Linked Data

• dbSNP Id: rs1206016606
• gnomAD v2: 8-27320670-G-GCCACAGAGGGT
• gnomAD v4: 8-27463153-G-GCCACAGAGGGT
• MyVariant Identifiers: chr8:g.27320670_27320671insCCACAGAGGGT (hg19) ; chr8:g.27463153_27463154insCCACAGAGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463153_27463154insCCACAGAGGGT , CM000670.2:g.27463153_27463154insCCACAGAGGGT	GRCh38
NC_000008.10:g.27320670_27320671insCCACAGAGGGT , CM000670.1:g.27320670_27320671insCCACAGAGGGT	GRCh37
NC_000008.9:g.27376587_27376588insCCACAGAGGGT	NCBI36
NG_015827.1:g.21143_21144insACCCTCTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1289_1290insACCCTCTGTGG MANE Select	ENSP00000385026.1:p.Gly434AlafsTer?
ENST00000240132.7:c.1244_1245insACCCTCTGTGG	ENSP00000240132.2:p.Gly419AlafsTer?
ENST00000407991.2:c.1289_1290insACCCTCTGTGG	ENSP00000385026.1:p.Gly434AlafsTer?
ENST00000520600.1:n.290-1400_290-1399insACCCTCTGTGG
ENST00000520933.7:c.1223_1224insACCCTCTGTGG	ENSP00000429616.2:p.Gly412AlafsTer?
ENST00000523695.5:c.*691_*692insACCCTCTGTGG	ENSP00000430612.1:n.*691_*692insACCCTCTGTGG
NM_000742.3:c.1289_1290insACCCTCTGTGG	NP_000733.2:p.Gly434AlafsTer?
NM_001282455.1:c.1244_1245insACCCTCTGTGG	NP_001269384.1:p.Gly419AlafsTer?
XM_005273397.1:c.812_813insACCCTCTGTGG	XP_005273454.1:p.Gly275AlafsTer?
XM_006716282.1:c.1289_1290insACCCTCTGTGG	XP_006716345.1:p.Gly434AlafsTer?
XM_011544388.1:c.1289_1290insACCCTCTGTGG	XP_011542690.1:p.Gly434AlafsTer?
XM_011544389.1:c.695_696insACCCTCTGTGG	XP_011542691.1:p.Gly236AlafsTer?
NM_001347705.1:c.812_813insACCCTCTGTGG	NP_001334634.1:p.Gly275AlafsTer?
NM_001347706.1:c.812_813insACCCTCTGTGG	NP_001334635.1:p.Gly275AlafsTer?
NM_001347707.1:c.695_696insACCCTCTGTGG	NP_001334636.1:p.Gly236AlafsTer?
NM_001347708.1:c.695_696insACCCTCTGTGG	NP_001334637.1:p.Gly236AlafsTer?
XM_011544389.2:c.695_696insACCCTCTGTGG	XP_011542691.1:p.Gly236AlafsTer?
NM_000742.4:c.1289_1290insACCCTCTGTGG MANE Select	NP_000733.2:p.Gly434AlafsTer?
NM_001282455.2:c.1244_1245insACCCTCTGTGG	NP_001269384.1:p.Gly419AlafsTer?
NM_001347705.2:c.812_813insACCCTCTGTGG	NP_001334634.1:p.Gly275AlafsTer?
NM_001347706.2:c.812_813insACCCTCTGTGG	NP_001334635.1:p.Gly275AlafsTer?
NM_001347707.2:c.695_696insACCCTCTGTGG	NP_001334636.1:p.Gly236AlafsTer?
NM_001347708.2:c.695_696insACCCTCTGTGG	NP_001334637.1:p.Gly236AlafsTer?