Canonical Allele Identifier: CA7377909

Gene: AHNAK2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104941978T>C , CM000676.2:g.104941978T>C	GRCh38
NC_000014.8:g.105408315T>C , CM000676.1:g.105408315T>C	GRCh37
NC_000014.7:g.104479360T>C	NCBI36
NG_054630.1:g.41380A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138420.4:c.13473A>G MANE Select	NP_612429.2:p.Pro4491=
ENST00000333244.6:c.13473A>G MANE Select	ENSP00000353114.4:p.Pro4491=
NM_001350929.1:c.13173A>G	NP_001337858.1:p.Pro4391=
NM_001350929.2:c.13173A>G	NP_001337858.1:p.Pro4391=
NM_138420.2:c.13473A>G	NP_612429.2:p.Pro4491=
NM_138420.3:c.13473A>G	NP_612429.2:p.Pro4491=
ENST00000333244.5:c.13473A>G	ENSP00000353114.4:p.Pro4491=
ENST00000555122.1:n.13601A>G
ENST00000557457.1:c.-220-1000A>G	ENSP00000450998.1:n.-220-1000A>G
XM_005267299.1:c.13173A>G	XP_005267356.1:p.Pro4391=
XM_024449463.1:c.13173A>G	XP_024305231.1:p.Pro4391=