Canonical Allele Identifier: CA323103175

Gene: GAS2L1

Linked Data

• dbSNP Id: rs935682050
• gnomAD v4: 22-29312632-C-T
• MyVariant Identifiers: chr22:g.29708621C>T (hg19) ; chr22:g.29312632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29312632C>T , CM000684.2:g.29312632C>T	GRCh38
NC_000022.10:g.29708621C>T , CM000684.1:g.29708621C>T	GRCh37
NC_000022.9:g.28038621C>T	NCBI36
NG_032959.1:g.10626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616432.5:c.*135C>T MANE Select	ENSP00000478908.1:n.*135C>T
ENST00000406549.7:c.*135C>T	ENSP00000383995.3:n.*135C>T
ENST00000611648.2:c.*135C>T	ENSP00000479551.1:n.*135C>T
ENST00000616432.4:c.*135C>T	ENSP00000478908.1:n.*135C>T
ENST00000618518.3:c.*135C>T	ENSP00000481012.1:n.*135C>T
ENST00000621062.4:c.*135C>T	ENSP00000478343.1:n.*135C>T
NM_001278730.1:c.*135C>T	NP_001265659.1:n.*135C>T
NM_006478.4:c.*135C>T	NP_006469.2:n.*135C>T
NM_152236.2:c.*135C>T	NP_689422.1:n.*135C>T
XM_011529824.1:c.*135C>T	XP_011528126.1:n.*135C>T
XM_011529825.1:c.*135C>T	XP_011528127.1:n.*135C>T
NM_001362985.1:c.*135C>T	NP_001349914.1:n.*135C>T
XM_017028533.1:c.*135C>T	XP_016884022.1:n.*135C>T
NM_001278730.2:c.*135C>T	NP_001265659.1:n.*135C>T
NM_001362985.2:c.*135C>T	NP_001349914.1:n.*135C>T
NM_006478.5:c.*135C>T	NP_006469.2:n.*135C>T
NM_152236.3:c.*135C>T	NP_689422.1:n.*135C>T
NM_001362985.3:c.*135C>T MANE Select	NP_001349914.1:n.*135C>T
NM_001395196.1:c.*135C>T	NP_001382125.1:n.*135C>T
NM_001395197.1:c.*135C>T	NP_001382126.1:n.*135C>T