Canonical Allele Identifier: CA8690205

Gene: NACA2

Linked Data

• dbSNP Id: rs777322586
• ExAC: 17:59668131 T / TA
• gnomAD v2: 17-59668131-T-TA
• gnomAD v3: 17-61590770-T-TA
• gnomAD v4: 17-61590770-T-TA
• MyVariant Identifiers: chr17:g.59668131_59668132insA (hg19) ; chr17:g.61590770_61590771insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590771dup , CM000679.2:g.61590771dup	GRCh38
NC_000017.10:g.59668132dup , CM000679.1:g.59668132dup	GRCh37
NC_000017.9:g.57022914dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.410dup MANE Select	ENSP00000427802.1:p.Ala138SerfsTer11
ENST00000521764.2:c.410dup	ENSP00000427802.1:p.Ala138SerfsTer11
NM_199290.3:c.410dup	NP_954984.1:p.Ala138SerfsTer11
NM_199290.4:c.410dup MANE Select	NP_954984.1:p.Ala138SerfsTer11