Canonical Allele Identifier: CA2686678225

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463319-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463320_27463321dup , CM000670.2:g.27463320_27463321dup	GRCh38
NC_000008.10:g.27320837_27320838dup , CM000670.1:g.27320837_27320838dup	GRCh37
NC_000008.9:g.27376754_27376755dup	NCBI36
NG_015827.1:g.20976_20977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1122_1123dup MANE Select	ENSP00000385026.1:p.Pro375ArgfsTer6
ENST00000240132.7:c.1077_1078dup	ENSP00000240132.2:p.Pro360ArgfsTer6
ENST00000407991.2:c.1122_1123dup	ENSP00000385026.1:p.Pro375ArgfsTer6
ENST00000520600.1:n.290-1567_290-1566dup
ENST00000520933.7:c.1056_1057dup	ENSP00000429616.2:p.Pro353ArgfsTer6
ENST00000523695.5:c.*524_*525dup	ENSP00000430612.1:n.*524_*525dup
NM_000742.3:c.1122_1123dup	NP_000733.2:p.Pro375ArgfsTer6
NM_001282455.1:c.1077_1078dup	NP_001269384.1:p.Pro360ArgfsTer6
XM_005273397.1:c.645_646dup	XP_005273454.1:p.Pro216ArgfsTer6
XM_006716282.1:c.1122_1123dup	XP_006716345.1:p.Pro375ArgfsTer6
XM_011544388.1:c.1122_1123dup	XP_011542690.1:p.Pro375ArgfsTer6
XM_011544389.1:c.528_529dup	XP_011542691.1:p.Pro177ArgfsTer6
NM_001347705.1:c.645_646dup	NP_001334634.1:p.Pro216ArgfsTer6
NM_001347706.1:c.645_646dup	NP_001334635.1:p.Pro216ArgfsTer6
NM_001347707.1:c.528_529dup	NP_001334636.1:p.Pro177ArgfsTer6
NM_001347708.1:c.528_529dup	NP_001334637.1:p.Pro177ArgfsTer6
XM_011544389.2:c.528_529dup	XP_011542691.1:p.Pro177ArgfsTer6
NM_000742.4:c.1122_1123dup MANE Select	NP_000733.2:p.Pro375ArgfsTer6
NM_001282455.2:c.1077_1078dup	NP_001269384.1:p.Pro360ArgfsTer6
NM_001347705.2:c.645_646dup	NP_001334634.1:p.Pro216ArgfsTer6
NM_001347706.2:c.645_646dup	NP_001334635.1:p.Pro216ArgfsTer6
NM_001347707.2:c.528_529dup	NP_001334636.1:p.Pro177ArgfsTer6
NM_001347708.2:c.528_529dup	NP_001334637.1:p.Pro177ArgfsTer6