Canonical Allele Identifier: CA370807442

Gene: CHRNA2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27461754C>G , CM000670.2:g.27461754C>G	GRCh38
NC_000008.10:g.27319271C>G , CM000670.1:g.27319271C>G	GRCh37
NC_000008.9:g.27375188C>G	NCBI36
NG_015827.1:g.22543G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000742.4:c.1465G>C MANE Select	NP_000733.2:p.Val489Leu
ENST00000407991.3:c.1465G>C MANE Select	ENSP00000385026.1:p.Val489Leu
NM_000742.3:c.1465G>C	NP_000733.2:p.Val489Leu
NM_001282455.1:c.1420G>C	NP_001269384.1:p.Val474Leu
NM_001282455.2:c.1420G>C	NP_001269384.1:p.Val474Leu
NM_001347705.1:c.988G>C	NP_001334634.1:p.Val330Leu
NM_001347705.2:c.988G>C	NP_001334634.1:p.Val330Leu
NM_001347706.1:c.988G>C	NP_001334635.1:p.Val330Leu
NM_001347706.2:c.988G>C	NP_001334635.1:p.Val330Leu
NM_001347707.1:c.871G>C	NP_001334636.1:p.Val291Leu
NM_001347707.2:c.871G>C	NP_001334636.1:p.Val291Leu
NM_001347708.1:c.871G>C	NP_001334637.1:p.Val291Leu
NM_001347708.2:c.871G>C	NP_001334637.1:p.Val291Leu
ENST00000240132.7:c.1420G>C	ENSP00000240132.2:p.Val474Leu
ENST00000407991.2:c.1465G>C	ENSP00000385026.1:p.Val489Leu
ENST00000520600.1:n.290G>C
ENST00000520933.7:c.1399G>C	ENSP00000429616.2:p.Val467Leu
ENST00000523695.5:c.*867G>C	ENSP00000430612.1:n.*867G>C
XM_005273397.1:c.988G>C	XP_005273454.1:p.Val330Leu
XM_006716282.1:c.1465G>C	XP_006716345.1:p.Val489Leu
XM_011544388.1:c.1465G>C	XP_011542690.1:p.Val489Leu
XM_011544389.1:c.871G>C	XP_011542691.1:p.Val291Leu
XM_011544389.2:c.871G>C	XP_011542691.1:p.Val291Leu