Canonical Allele Identifier: CA590945080

Gene: HMCN2

Linked Data

• dbSNP Id: rs1239278951
• gnomAD v2: 9-133308648-CTGGCAGGGAGGTCTGAGTTACGCGGA-C
• gnomAD v3: 9-130433261-CTGGCAGGGAGGTCTGAGTTACGCGGA-C
• gnomAD v4: 9-130433261-CTGGCAGGGAGGTCTGAGTTACGCGGA-C
• MyVariant Identifiers: chr9:g.133308649_133308674del (hg19) ; chr9:g.130433262_130433287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433265_130433290del , CM000671.2:g.130433265_130433290del	GRCh38
NC_000009.11:g.133308652_133308677del , CM000671.1:g.133308652_133308677del	GRCh37
NC_000009.10:g.132298473_132298498del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-83_14838-58del	ENSP00000485357.2:n.14838-83_14838-58del
ENST00000683500.2:c.14895-83_14895-58del MANE Select	ENSP00000508292.2:n.14895-83_14895-58del
ENST00000623487.1:n.3158_3183del
ENST00000624552.3:c.14835-83_14835-58del	ENSP00000485357.1:n.14835-83_14835-58del
NM_001291815.1:c.14895-83_14895-58del	NP_001278744.1:n.14895-83_14895-58del
XM_011518465.1:c.14772-83_14772-58del	XP_011516767.1:n.14772-83_14772-58del
XM_011518466.1:c.14763-83_14763-58del	XP_011516768.1:n.14763-83_14763-58del
XM_011518467.1:c.14718-83_14718-58del	XP_011516769.1:n.14718-83_14718-58del
NM_001291815.2:c.14895-83_14895-58del MANE Select	NP_001278744.1:n.14895-83_14895-58del
XM_011518465.2:c.14772-83_14772-58del	XP_011516767.1:n.14772-83_14772-58del
XM_011518466.2:c.14763-83_14763-58del	XP_011516768.1:n.14763-83_14763-58del
XM_011518467.2:c.14718-83_14718-58del	XP_011516769.1:n.14718-83_14718-58del
XM_017014585.1:c.11676-83_11676-58del	XP_016870074.1:n.11676-83_11676-58del
XM_017014586.1:c.7473-83_7473-58del	XP_016870075.1:n.7473-83_7473-58del
XR_001746957.1:n.92+334_92+359del
XR_001746958.1:n.92+334_92+359del