Canonical Allele Identifier: CA357404563

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1011274561
• gnomAD v2: 4-79832838-G-A
• gnomAD v4: 4-78911684-G-A
• MyVariant Identifiers: chr4:g.79832838G>A (hg19) ; chr4:g.78911684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911684G>A , CM000666.2:g.78911684G>A	GRCh38
NC_000004.11:g.79832838G>A , CM000666.1:g.79832838G>A	GRCh37
NC_000004.10:g.80051862G>A	NCBI36
NG_047162.1:g.140307G>A
NG_053104.1:g.32755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3137G>A (BMP2K) MANE Select	ENSP00000424668.2:p.Ser1046Asn
ENST00000335016.9:c.3137G>A (BMP2K)	ENSP00000334836.5:p.Ser1046Asn
ENST00000342820.10:c.*782+3526C>T (PAQR3)	ENSP00000344203.6:n.*782+3526C>T
ENST00000502613.1:c.2214G>A (BMP2K)
ENST00000511594.5:c.*505C>T (PAQR3)	ENSP00000425080.1:n.*505C>T
ENST00000512760.5:c.*792+3526C>T (PAQR3)	ENSP00000426875.1:n.*792+3526C>T
ENST00000628286.1:c.*2113G>A (BMP2K)	ENSP00000487317.1:n.*2113G>A
NM_198892.1:c.3137G>A (BMP2K)	NP_942595.1:p.Ser1046Asn
XM_005263117.1:c.3026G>A (BMP2K)	XP_005263174.1:p.Ser1009Asn
XM_011532101.1:c.2897G>A (BMP2K)	XP_011530403.1:p.Ser966Asn
XR_938694.1:n.1118-5523C>T (PAQR3)
XM_017008381.1:c.2897G>A (BMP2K)	XP_016863870.1:p.Ser966Asn
XM_017008382.1:c.2249G>A (BMP2K)	XP_016863871.1:p.Ser750Asn
XR_938694.3:n.1098-5523C>T (PAQR3)
NM_198892.2:c.3137G>A (BMP2K) MANE Select	NP_942595.1:p.Ser1046Asn